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Misbah Riaz1, Qaiser Mansoor2, Maleeha Akram1, Muhammad Ismail2, Parveen Akhtar3, Shakeel Mirza4, Mazhar Qayyum1, Afzaal Ahmed Naseem1, Faheem Tahir5 and Syed Shakeel Raza Rizvi1*

...54 and GNRHR splice site exons. Mutations were analyzed by single-stranded conformation polymorphism (SSCP) and/or sequencing. No mutation was identified in GPR54 gene, while two mutations in GNRHR gene were observed in one sporadic case of isolated HH. The first was a synonymous substitution mutation of T to G at nucleotide position 123, which did not replace valine with any other amino acid. The other mutation determined at nucleotide position 101, was a mis...

Pan-pan Guo1, Wei Liu2, Yan Li2, Rui-yu Ma2, Wang Zaigui1*, Kai Zhan2*, Jun-ying Li2 and Sheng-nan Liu2 

... detected and located in exon 42 and intron 54 in HTT gene, respectively. One of them (g. 50831 G>C) was a missense mutation. Genotype and allele frequency analysis showed that SNP G62976A and SNP G50831C of the HTT gene in chicken had some effects on reproduction traits, and the genotype GG was the advantageous genotype. Additionally, four HTT haplotypes (H1: GG; H2: GC; H3: AG; H4: AC) and their frequency distributions were estimated using the phase progr...
Jakub Jan Skorupski
...ing 5’-UTR and all exons and introns. The study involved 389 animals. The sequencing results revealed the presence of 5 exons (10 bp, 161 bp, 117 bp, 162 bp, 201 bp) and 4 introns (245 bp, 171 bp, 176 bp, 290 bp), with a total length of 1745 bp. Fourteen polymorphic variable sites were identified: 12 SNP substitutions, one single nucleotide deletion and one ins/del polymorphism. The assessment of informativeness and co...
Sadia Munir1a, Asif Nadeem1a*, Maryam Javed1, Masroor Ellahi Babar2, Tanveer Hussain2, Wasim Shehzad1, Rajput Zahid Iqbal3 and Sidra Manzoor1 
... 12 in intronic and 3 in exonic region, were identified. The sequences of the amplified Pit1 gene fragments were aligned with the help of BLAST for SNPs identification. This is a first report toward genetic screening of this gene at molecular level in Sahiwal cattle of Pakistan. No work has been reported on this gene in Sahiwal cattle. In this study, a new set of single nucleotide polymorphisms (SNPs) were reported. Heterozygosity, allelic and genotypic...
Ayesha Zahid,Ammara Muazzam, Sidra Mustafa, Saba Irshad*,Malik Siddique Mahmood and Rehman Shahzad

 

... screened by PCR-SSCP in exon 2 of GJA8 and this tansversion altered exceedingly conserved glutamic acid to glutamine at site which was involved in coding of ASF1 like histone chaperone. Further presumption based on structural and functional analysis of mutated protein was anticipated by bioinformatics tools, which manifest mild changes in overall charge but altered post translational modifications in a way which might have a deleterious effect on ion channels...
Javeria1, Masroor Ellahi Babar2,*, Tanveer Hussain2, Rashid Saif2, Sadaf Rashid3, Hanan Sarfraz4, Abbas Ali Shah3, Muhammad Wasim1 and Muhammad Abdullah1
...through mutation taster, exon splicing enhancer and polyphin2 software predicted this polymorphism as a site broken and possibly damaging. These findings suggest that BDNF polymorphism Val66Met has some possible role in OCD development in Punjabi patients.
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Mehran Kausar1,2, Naveed Ashraf3, Farzana Hayat4, Asraf Hussain Hashmi1, Saima Siddiqi1,* and Mariam Anees2
...ive mutation. All coding exons of CTSK gene were amplified and sequenced in the affected and unaffected individuals of a consanguineous Pakistani family consisting of five members, three affected brothers, one unaffected sister and the unaffected mother. We identified a known missense mutation c.136 C>T in the third exon of CTSK changing arginine to tryptophan (p.Arg46Trp) which segregated with the disorder....
Saba Manzoor1,*, Ali Raza Awan1, Abdul Wajid1, Sehrish Firyal1, Muhammad Tayyab1, Muhammad Mansha2, Asim Khalid Mahmood3, Abu Saeed Hashmi1 and Muhammad Wasim1,*
...on of c-Myc gene (exon2 and 3) did not show any variation in both species. While expression of c-Myc gene was found to be up regulated in different canine (62.5% in mammary adenocarcinoma, 75% in oral squamous cell carcinoma, 66.6% in peri-anal sac adenocarcinoma, 80% in mast cell tumor and 100% in soft tissue sarcoma) and feline (60% in mammary adenocarcinoma and 100% in soft tissue sarcoma) tumors studied. These findings might support the estab...
Jianping Li1, Qian Jiang2, Wei Chen2, Yumei Li3, Huaizhi Jiang4, Jinlong Huo5 and Qiaoling Zhang2*
...r;G missense mutation in exon 13 differentiated cashmere goats with different colors. Only a histidine (H)→arginine (R) amino acid (AA) change was detected at KIT exon 13 in both the white cashmere goat and the black cashmere goat. Moreover, comparison with other species revealed three dramatic amino acid mutation areas. Our results also indicated that c-kit expression was higher in the white cashmere goat than i...
RuiHua Zhang, YongFang Jia, TingTing Liang, QianWen Yang, QiYan Du and ZhongJie Chang*
...oxD have two to four exons and encode a 780, 784 and 602 amino acid protein, respectively. Chromosome synteny analyses revealed that CcSox5 and CcSox13 weretightly linked with the etnk gene, which was conserved in all species; however, there were no conserved regions flanking CcSox6. Numerous essential transcription factor binding sites (TFs) were predicted within the 2000 bp upstream of the 5’ end of these genes. These TFs inclu...
Selçuk Kaplan1,* and Sertaç Atalay2
....02 (BB). The SNP in the exon 3 of the LEP gene was detected by amplification of the 494 bp region using specific primers and cleavage with the BcnI enzyme. The estimated frequencies of three genotypes including GG, GA and AA at Lep/BcnI polymorphism were 0.90, 0.09 and 0.01 and they were 0.055 and 0.945 for A and G alleles, respectively. LEP and IGF1 gene showed polymorphic patterns in Kivircik crossbred sheep population. There was no dev...
Ali Haider Saleem1,*, Khalid Javed2, Masroor Ellahi Babar3, Tanveer Hussain3, Asad Ali2, Afzal Ali2, Nisar Ahmad2, Muhammad Zahid Farooq1 and Muhammad Dawood2
...s, a 1486 bp fragment of exon three was amplified and sequenced. Sequence analysis revealed single nucleotide polymorphism (T>A at position 483) and a sheterozygous condition (T>W at position 483). Generalized linear model was used to minimize the environmental effects. The variation i.e. “W” type heterozygous condition showed a higher average daily weight gain. Sequence analysis of LEP gene confirmed the presence of genetic variabilit...
Sana Zahra
...ense mutation p.Y556C in exon 15 of SLC26A4 gene was identified in all the four families. It may be concluded that p.Y556C mutation is a recurrent mutation in Punjab province of Pakistan.
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Selçuk Kaplan
...re, bubaline leptin gene exon 2, part of the intron 1 and intron 2 region were amplified and sequenced to identify nucleotide variations in Anatolian water buffaloes. Sequence analysis were revealed seven polymorphic site (G1072A, T1081C, T1131G, T1143C, T1145G, T1151G and C1221T) and one monomorphic site (C1071T) in Anatolian water buffaloes. To the best of my knowledge, this is the first study that fully describes seven polymorphic sites of bubaline leptin g...
Abdul Wajid1,*, Asma Basharat2, Muhammad Akbar Shahid3, Sidra Tul Muntaha1, Abdul Basit4, Tanveer Hussain5, Muhammad Farooq Tahir6, Muhammad Azhar7, Masroor Ellahi Babar1 and Shafqat Fatima Rehmani2
...he sequence analysis of hexon gene of 10 isolates associated with IBH and HPS was determined. Sequence alignment and phylogenetic analysis based on direct sequencing of hypervariable region of hexon gene grouped these sequences into two distinct groups, three FAdV isolates were clustered together belonging to fowl adenoviruses C species and serotype FAdV-4. The similar viruses have been commonly isolated since late 1980s fro...
Maryam Javed*, Farwa Saghir, Naveera Aziz, Maham Saeed, Asif Nadeem and Wasim Shehzad
...rker V158M is present in exon-8 of COMT gene. Each specie was subjected to blood sampling (n=20 each). DNA was extracted, purified, quantified and amplified through PCR by using specific primer set. Then Sanger’s method of DNA sequencing was used. Multiple sequence alignment demonstrated that sheep and goat were having the wild base Guanine against which the cattle and buffalo depicted the mutant form Adenine. Results of this study illustrated the geneti...
Gangchun Xu1,2, Fukuan Du2, Yuyu Wang2, Yan Li2, Zhijuan Nie2 and Pao Xu1,2,*
...g, and composed of seven exons and six introns. The full-length genomic DNA sequence of PTGES2b is 1,908 bp long, and composed of six exons and five introns. PTGES2a was strongly expressed in the gills and liver while PTGES2b was strongly expressed in the gills and testis. Expression of both PTGES2a and PTGES2b decreased from stage III to stage V and PTGES2a was significantly more hi...
Hua-Lun Luo, Yi-Yu Zhang*, Yuan-Yu Qin and Lei Wu
...>A silent mutation in exon 10 was first identified by direct sequencing approach, and resulted in three genotypes of AA, GA and GG. Association analysis demonstrated that the liver ChREBP mRNA expression level was significantly positive or negative effect on serum total protein (TP), albumin (Alb), triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) (P<0.05 or P<0.01)....
Madeeha Khalid and Amtul Jamil Sami*
...he proximal promoter and exon 1 (proximal portion) of the GH-1 gene to analyze the SNPs and allele frequencies of respective SNPs. Genomic DNA from blood was extracted, and the selected region was amplified using PCR. Sequencing of the amplified product was performed using Sanger sequencing, and the resulting sequence was analyzed. We have recorded 11 SNPs in total that occur in the VDRE region, 5’ UTR and untranslated region of ...
Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*
...tation (c.1131G>A) in exon 3 was revealed by Sanger sequencing.
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Farah Bilal*, Abdulmohsen Alhejaily, Shahida Husnain
...bserved in PIK3CA exon 20 which leads to change A>G at codon 1047. This transition converts amino acid histidine to arginine. Our study concluded p.H1047R most frequent while p.E545K rarely found mutations in PIK3CA gene in NSCLC population. Present study can be proved as road map in setting PIK3CA mutations as potential therapeutics target for NSCLC in non-smokers. 
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Aqsa Javaid and Nageen Hussain*
...lly in FOXP3 gene exon 1 that may clarify the reason of reduction of T regulatory cells (Tregs) due to HIV/AIDS. A total of 25 HIV patients were chosen from the Institute of Public Health on the basis of confirm HIV infection and 25 healthy controls as well. First genomic DNA was extracted from the peripheral blood and then amplified by using specific designed primers. Gradient PCR was performed and the product length was 197 bps which was further analy...
Sajida Sabahat1, Asif Nadeem1,*, Maryam Javed1, Muhammad Yasir Zahoor1, Abu Saeed Hashmi1, Ghulam Yasein2 and Ghulam Abbas1 
...T→C polymorphism in exon 5 that causes a substitution of an amino acid from Cysteine to Arginine.That Cys/Arg polymorphism may serve as authoritative genetic marker for selective improvement of growth traits in camel. These results suggest that Marecha camel has genetic variability in the IGF-1 and may be helpful for preservation strategies and future selection programs.  

 

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Memis Ozdemir
...olymorphism found in the exon 3 or exon 4 region of bovine prolactin gene in the literature. The aim of this study was to determine whether the DNA sequence of the Prl gene exon 3 or exon 4 in cattle breeds has the RsaI polymorphic digestion site. As a result of the study, it has been seen that the Prl/RsaI specificpolymorphic...
Jun Yan Bai1*, Xiao Ping Jia2, Xiao Hong Wu1, Guang Lu Li1, Heng Cao1, Xue Yan Fu1 and Kun Peng Shi1
...G) was detected from the exon 2 of FMO3, the A allele frequencies of A66G in Beijing white quail, China yellow quail and Korean quail were 0.603, 0.500 and 0.574, while G allele frequencies were 0.397, 0.500 and 0.426, respectively. One SNPs mutation site (C219T) was detected from the exon 9, C allele frequencies of C219T in Beijing white quail, China yellow quail and Korean quail were 0.125, 0.250 and 0.000, and the T allel...
Wenping Hu1, Xiangyu Wang1, Xiaodi Sun2, Ran Di1, Qiuyue Liu1, Zhangyuan Pan1, Xiaofei Guo1, Xiaohan Cao1, Jinyu Wang2, Yingjie Zhang3, Mei Jin4, Yuze Yang5 and Mingxing Chu1*
... in intron 1 (C327T) and exon 2 (G1803A) separately. Although there were significant differences of C327T/G1803A genotype distributions in five different sheep breeds, it did not relate with the year-round estrus. The relationship between these polymorphisms of TAC3 and the litter size of Small Tail Han sheep was not found.
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Guang-Hui Tan, Yi-Yu Zhang*, Yuan-Yu Qin, Lei Wu and Jie-Zhang Li
...;G and CDS 681 T>A in exon 2 and exon 3 of CYP7A1 gene, respectively, and both SNPs changed DNA single strand conformation. The A and T allele of CDS 216 A>G and CDS 681 T>A was dominant allele, and its frequency was 0.554 and 0.800, respectively. Each SNP resulted in three genotypes. The genotypic distribution of CDS 216 A>G and CDS 681 T>A was not deviated and deviated from Hardy-Weinberg equilibrium (HWE), ...
Hong Hu1, 2, Li Qian1, Yuanlang Wang1, Chaodong Wu1, Xiaodong Zhang1, Yueyun Ding 1*, Li Wang1, Xudong Wu1, Wei Zhang1, Dengtao Li1, Jian Ding1, Min Yang1 and Zongjun Yin1*
...st reads were located in exonic region, while less reads were located in intergenic and intronic regions. There were 2601 upregulated genes, but 284 downregulated genes in Yorkshire pigs compared with those in Anqingliubai pigs. The top 10 most significant Gene Ontology (GO) terms included catalytic activity, binding, cell, cytoplasm, positive regulation of multicellular organismal process, biological regulation, cellular process, etc. There were 54 significan...
Yifan Ni1, Jian Liu1, Fen Wu1, Jianfeng Cai1, Jinzhi Zhang1*, Jianqing Hua2 and Jiping Fu2
...→A) was detected in exon 1 of MDR1 gene, which caused a synonymous mutation of amino acid (Leu→Leu), the other one (T→A) in exon 7 of OPN gene, resulting in a non-synonymous mutation (His→Gln). The association analysis indicated that the GG genotype of MDR1 gene and the TT genotype of OPN gene had the highest values for the total number of piglets born (TNB), the number of pigl...
Wentao Wang1,2, Xu Lin3, Jianshu Zhuo3, Dongjie Zhang2, Xiuqin Yang3* and Di Liu1, 2*
...ariants were produced by exon skipping, alternative 5’ and 3’ splice sites alone or in combination. Minigene analysis showed that the splicing of porcine E2F3b is complicated. E2F3b isoforms are expressed in all tissues studied with high level in spleen and muscle. Both of isoforms V1 and 2, containing functional domains of E2Fs, were localized throughout cells. No functional nuclear localization sequence and export signal were characterized throug...
Jun Yan Bai*, Zhi Hao Dong, Hui Rong Gong, Xiao Ning Lu and Zi Heng Li
...olymorphism of ESR1 gene exon 4 in three laying quail populations was detected by PCR product sequencing, and the correlation between ESR1 gene and carcass traits of laying quail was analyzed. The results show that, Exon 4 of ESR1 gene among Beijing white quail, the pectora weight and pectoral muscle rate of CC genotype was significantly higher than that of CT and TT genotype(P<0.05). Among Korean quail, the body w...
Syahruddin Said1*, Widya Pintaka Bayu Putra1 and Dani Nur Arifin2
...the polymorphisms in the exon 11 of bLHR/HhaI gene (SNP g.1553C>T) and its association with service per conception (S/C) of Pasundan cows of West Java, Indonesia. Total of 147 Pasundan cows were used in this study. The PCR-RFLP analysed three genotypes of CC (0.11), CT (0.57) and TT (0.32) were detected in the Pasundan bLHR/HhaI gene with T allele as the dominant allele (0.61). Observed (Ho) and expected (He) heterozygosi...

 Muhammad Ajmal1, Saima Mustafa1, Fizza Ibrahim Bajwa1, Cheng Zhou2, Guangdong Wen2, Soe Lwin Myint2, Syed Irfan Raza3, Ihtasham Bukhari4, Mubashir Hassan5, Muhammad Faisal6 and Furhan Iqbal1*

... the over lapping intron exon regions of HR gene followed by DNA sequencing. Analysis of the DNA sequence revealed a novel deletion c.429delC in exon 2 of HR gene. Due to this deletion Proline at 144 changed into Lysine causing frame shift leading to premature termiation of the protein after 23 amino acid residues (p.P144LfsX23), resulting in a truncated HR protein with 166 amino acid residues. The mutation fol...
Muhammad Naveed1, Asif Nadeem1,2*, Maryam Javed1, Muhammad Fahad Bhutta3 and Ruqayya Bint Khalid1
...in intronic and three in exonic regions, were identified in STAT5A gene. One exonic polymorphism G→A, in exon 5, was significant that causes a non-synonymous amino acid change from Serine (S) to Asparagine (N). Further, 64 genetic variants were also identified in STAT5A gene and these variants were due to cattle and buffalo differences. Phylogenetic analysis and evolutio...
Maria Qibtia1, Muhammad Wasim1, Farzana Chowdhary1, Muhammad Tayyab1, Sehrish Faryal1, Ahmed Mansouri2, Zeeshan Ahmad2, Muhammad Hamid3 and Ali Raza Awan1,*
...n and 12 in the intronic/exonic region of LCT-gene. Among these 12 mutations, 6 of them are novel in origin. The novel mutations were found in intron 4 c.(918+116)A>C, intron 12 c.(4877+20)G>A, intron 15 c.(5346+35)T>C, UTR of exon 17 (c.5865C>T), exon 6 c.1147A>G and c. 1095A>G. Four mutations resulted in an altered amino acid sequence. The frequency of each mutat...
Zeynep Sonmez1 and Memis Ozdemir2,*
...s. In the 1st exon of the EPS8 gene, 9 polymorphic regions were identified as g.94554132C>T, g.94554252G>C, g.94554348T>G, g.94554354C>G, g.94554372C>G, g.94554389A>G, 94554392C>G, 94554399A>G, and 94554439C>G. Within the region examined in the 2nd exon of the EPS8 gene, only the g.94555920T>G polymorphism was identified. In the 1st
Ruqayya Bint Khalid1, Asif Nadeem1,2*, Maryam Javed1, Muhammad Zubair Shabbir3 and Masroor Ellahi Babar4
...lecular characterize the exonic regions of β-casein gene and to explore the status of A1/A2 β-casein type in Cholistani cattle breed of Pakistan. Blood samples of Cholistani Cattle were collected from Government Livestock Farm, Jugait Peer, Bahawalpur. Genomic DNA was extracted from whole blood by organic method. PCR primers were designed and optimized according to respective melting temperatures. PRALINE tool, MEGA 6.0 and POPGENE tool were utilized...
Jun Yan Bai*, Yu Chen, Qi Hang Hu, Zhi Hao Dong, Ying Lei, You Bing Yang, Shu Juan Zhao and You Zhi Pang
...ence the polymorphism of exon 4 of ESR gene in three quail populations (Chinese yellow quail, Korean quail, Beijing white quail) and analyze the association between ESR gene and growth traits of quails. The results show that three genotypes, CC, CT and TT, were detected in exon 4 of ESR1 gene in three quail populations. The highest frequencies of TT gene were 0.409 and 0.617 in China yellow quail and Kor...
Niaz Muhammad1, Samina Yasin1, Zunaira Fatima1, Noor ul Ain1, 
Muhammad Faizan2 and Sadaf Naz1*
...analysis of FGFR3 exon 9 revealed that more than 90%cases had the c.1138G>A p.(Gly380Arg) variant. Our results suggest that c.1138G>A variant is the most common cause of achondroplasia in Pakistan, a finding which is similar to that reported for achondroplasia patients from other countries.
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Hamida Bibi1*, Dave Rraffaelli2 and Muhammad Sharif1

...ry by Average Score Per Texon (ASPT) as well as water conductivity. For most sites the body mass distributions were skewed towards smaller body sizes with another apparent mode for large size class. Contrary Kernel Density Estimates (KDE) for body mass spectra revealed marked differences in modalities among the sites. The distributions of body masses in cleanest and polluted sites were inversely related with water quality while intermediate quality sites were ...
Zhi Hao Dong1, Jun Yan Bai1*, Xiao Ping Jia2, Ying Lei1, Hui Cao1, You Bing Yang1 and Guang Lu Li1
...and TT, were detected in exon 1, exon 4 and exon 8 of ESR gene. The frequencies of CC genotype in expressed exon 1 of ESR gene were the highest in french giant quail and savimit quail (0.531 and 0.778, respectively). The frequencies of TT genotype in expressed exon 4 of ESR gene were the highest in...
Jarosław Pytlewski1, Ireneusz R. Antkowiak1 and Ewa Czerniawska-Piątkowska2*
...sp;4 and 5 and exon 6 in the Limousine cattle breed and its relation to selected rearing traits. Relationships were determined between the genetic variants of the three polymorphic sites of the PIT-1 gene and the following rearing parameters: body weight at birth, body weight at weaning on day 270, daily weight gain from birth to weaning, age at first calving and body weight after first calving. The frequency of alleles of the a...
Hadia Gul1, Abdul Haleem Shah1, Ricardo Harripaul2, Anna Mikhailov2, Ejaz Ullah Khan3, Wasim Shah3, Nisar Ahmad3, John B Vincent2,4 and Muzammil Ahmad Khan3*
...onic nucleotides or skip exon-20 in the mature mRNA. Our study further supports the evidence of high incidence of OCA2 gene mutations in Pakistani families.

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Amtul Jamil Sami*, Sehrish Bilal and Syeda Anum Zahra

...flanking region covering exon 1 from local specie of Bubalus bubalis. As the 5’ region of the GH is very important in controlling the expression of the gene and minor changes in this sequence can affect its expression in blood. The PCR amplicon was sequenced and analyzed for homology with the help of BLAST search. Surprisingly, along with various point mutations in this region, we found that a considerable base sequence upstream ...

Saima Mustafa1, Firdous Bukhari1, Muhammad Nazar Aftab1, Muhammad Asif1, Muhammad Amjad1, Maryam Ijaz1, Muhammad Latif2 and Furhan Iqbal1*

...insp;G, p.Ser 671Pro) in exon 3 of COL10A1 gene. Sanger sequencing confirmed these mutations in all enrolled subjects and mutation followed Mendalian pattern of inheritance. Multiple sequence alignment by Clustal Omega revealed that domain of COL10A1 containing mutations is highly conserved. In conclusion, we are reporting a previously reported a missense mutation in COL10A1 gene that is causing MCDS in a large consanguineous Pakistani family.

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Tiara Widyaputri*, Aldryan Cristianto Pratama, Dian Vidiastuti, Yudit Oktanella
... segment on chromosome 1 exon 2 with a target length of 106bp has been successfully carried out with a success rate of 100%. RFLP analysis of NCOI cutting restriction enzymes shows that there are two bands at 66bp and 40bp. This shows that the normal allele frequency is one and the mutant allele is 0 with a heterozygous genotype frequency of 0% in the population. According to the result, the polymorphism that appears in the CD18 gene by PCR-RFLP method in all ...

Amira M. Nowier1, Hassan R. Darwish2, Sherif I. Ramadan3, Nadia A. Abo El-Maaty2 and Othman E. Othman2*

...dentify polymorphisms in exon III of the α-lactalbumin gene among three Egyptian goat breeds (Zaraibi, Damascus and Barki) and to investigate the effect of α-lactalbumin gene polymorphism, goat breed, type of birth, season of kidding, litter size and lactation stage on body weight and milk yield traits in Egyptian goats. One hundred and sixty blood samples were collected for DNA extraction; 74 from Zaraibi, 41 from Damascus, and 45 from Barki breed...

Roshana Mukhtar1, Shaheen Shahzad1*, Sajid Rashid2, Maryam Rozi2, Madiha Rasheed3, Imran Afzal4 and Pakeeza Arzoo Shaiq5

...>C [p. L237P]) in the exon 10.The sequence was further analysed in-silico to determine the effect of pathogenic mutation on protein structure. In-silico analysis and comparison between UROSL237P and UROSWT 3-dimensional structures revealed remarkable changes in the binding site of Urogen (3-[7, 12, 18-tris (2-carboxyethyl)-3, 8, 13, 17-tetrakis (carboxymethyl) 5, 10, 15, 20, 21, 22, 23, 24-octahydroporphyrin-2-yl] propanoic acid) due to narrowing of domain-...

Junyan Bai*, Jingyun Li, Yu Chen, Zhihao Dong, Youbing Yang and Ying Lei

...notypes were detected in exon II of GH gene in the six sheep populations. The highest frequencies of AB genotype detected in Mongolia sheep, Small-tailed han sheep, Tong sheep, Lanzhou large-tailed sheep and Henan large-tailed Han sheep were 0.375, 0.531, 0.545, 0.350 and 0.596, respectively, and the highest frequency of BB genotype in Yuxi fatty-tailed sheep was 0.378. Exon II of GH gene was significantly correlated with bo...

Chandni Wajid1, Abdul Hameed Baloch1, Ahmed Nawaz Khosa1*, Hubdar Ali Kaleri2, Nasrullah Bangulzai1, Sarfraz Ali Fazlani1, Haleema Sadia3, Saeeda Kalsoom4, Muhammad Bilawal Arain2, Wassem Ali Vistro2 

...re observed in all three exons of PROP1 gene of Balochi, Bibrik, Harnai and Rakhshani sheep breed of Balochistan. The phenotypic variation related to wool production traits including the fleece weight and wool color with diverse pigmentation and genetic variations observed in the coding region of the PROP1 gene. This study indicates that the PROP1 gene may be used as a selective marker for the future selection of the sheep breeds for different wool productive ...

Heba Abdo Basha1, Walaa Slouma Hamouda Abd El Naby2*, Samya Erian Ibrahim3, Abeer Fikry Elnahas2 

...ino acid substitution in exon 1 and 2 amino acids substitution in exon 2. In low body weight, only one non-synonymous mutation was recorded at exon 2. The 3’UTR-IGF-2 sequence showed 14 SNPs in high body weight and three SNPs in low body weight. The carcass weight percentage didn’t change significantly for high or low body weight. While carcass cuts percentage increased in high...
Ali Basim Abd Al-Hadi*, Tahreer Mohammed Al-Thuwaini, Mohammed Baqur Sahib Al-Shuhaib
...ragment of the FST gene (exon 4). Results of the genotyping technique identified three genotypes: CC, CG, and GG. Sequencing analysis revealed a novel mutation c. 25760691 C>G in the CG genotype. Association analysis revealed significant differences (P ≤ 0.05) between CC and other genotypes in reproductive hormone levels. Estrogen and progesterone were significantly higher (P≤0.05) and follicle-stimulating hormone (FSH) levels were lower in the CC gen...
Alicja Kowalczyk1*, Inga Kowalewska-Łuczak2, Ewa Czerniawska-Piątkowska3*, Jesús Juan Cantalapiedra4, Joaquim Orlando Lima Cerqueira5,6 and José Pedro Pinto de Araújo5,7
...ide substitutions within exon 4 of the quality of AQP7 gene may affect the sperm cells of Polish Holstein-Friesian bulls. The research material was biological material (semen and blood) collected from 60 Holstein-Friesian bulls of the same age. The nucleotide substitutions analyzed are located in exon 4 of the AQP7 gene and are responsible for missense mutations. Individual genotypes were determined using the PCR-RFLP method...

Xin Xing Dong1*, Gai Cui Bai2, Ming Li Li1, Guo Xiang Lan1, Da Wei Yan1, Xiao Yi Wang1, Qiang Chen1 and Shao Xiong Lu1*

...ere detected, one in the exon 1 (g.3734 G>T), which was synonymous, and two SNPs in intron 4 (g.7691 A>C and g.8523 T>C). The sites g.3734 G>T and g.7691 A>C had significantly impact on body weight at 21 days (BW21) and body weight at 70 days (BW70), the days when the pigs reached the target weights of 30 kg(D30) and 100 kg(D100), average daily gain between 30 kg and 100 kg (ADG), and backfat thickness of 100kg body weight (BFT) (P < 0.05 or ...

Tinda Afriani*, Endang Purwati, Yurnalis, Jaswandi, Mangku Mundana, Adisti Rastosari, Anna Farhana  

...esequencing of 962 bp of exon 9 and intron 9 of follicle stimulating hormone receptor (FSHR) gene in Pesisir cattle to identify single nucleotide polymorphisms (SNP). The samples used in this study were blood samples (n= 70) collected from Pesisir cattle (aged 2-5 years). DNA was isolated and the targeted region was amplified using the polymerase chain reaction (PCR) technique. Then the amplified products were sequenced. The results showed that the population ...

Ngoc Tan Nguyen1*, Tan Loi Le1, Thi Kim Ngan Vo1, Chi Hieu Do1, Tuan Thanh Hoang2, Nguyen Khang Duong3, Quang Minh Luu4

...gene polymorphism in the exon 5 region and its association with reproductive traits of TB crossbred ducks. Three hundred and thirty-one crossbred ducks were used in this study, with blood samples collected from the wing vein for DNA extraction to amplify the fragment length with 536 bp by PCR, and then the PCR products were cleaved with the PstI enzyme. The fragment length with 536 bp was successfully amplified in all individual samples, while genetic polymorp...

Asifa Majeed*, Amir Rashid, Palvasha Waheed, Asma Faryal, Aden Razaq and Ayesha Maryam

...genetic variation. Thus, exon 3 of the ABCG1 gene and exons 2 and 3 of the APOA1 gene do not contribute to the onset of dyslipidemia in type 2 diabetes patients.

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Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
...1) consists of one large exon of 1188 bps. It encodes 395 amino acid protein called Malin comprising a zinc finger of the Ring-type in the N-terminal half and 6 NHL-repeat domains in C-terminal. In this study, four families were enrolled from Balochistan including two or more epileptic individuals aged between 10-24 years. Blood samples were collected and DNA extraction was performed by inorganic method. DNA was amplified by polymerase chain reaction and subse...

M.E. Shawky and A.M. Daoud.

...olymerases with 3' to 5' exonuclease activity (PFU and Vent) was used in the amplification of large fragments (2 Kb, 3 CD genes) of foot and mouth disease virus (FMDV). Such long-distance polymerase chain reaction (LD-PCR) was conducted to reduce mismatch extension rates and improve epidemiological cloning and sequencing Studies. When enzyme mixtures in the reaction were optimized. The best results were obtained with Tth and PFU polymerases at concentrations o...

Tinda Afriani1*, Jaswandi1, Yurnalis1, Putri Oktavially1, I Made Merdana2 

... through analysis of the exon 5 gene. This study aimed to identify the characteristics of qualitative and quantitative traits and growth hormone patterns in crossbreeds between Pesisir and Friesian Holstein (FH) cattle. A total of 60 crossbreeds of Pesisir and FH cattle were used. The method employed involved a molecular analysis of growth hormone in the exon 5 gene using Polymerase Chain Reaction (PCR), alongside a qualitat...

Tanveer Hussain1, Abdul Wajid1, Jabbar Khan2, Asif Nadeem1, Misbah Hussain1, Qurat ul-Ain1 and Masroor Babar1*

...hways. In present study, exon 1 of IL-2 gene of four local Pakistani breeds (Dera Din Panah, Beetal, Nachi and Kamori) was amplified by using reported ovine IL-2 primers. Amplified products of 4 breeds of goat were bidirectionally sequenced to decipher polymorphisms. Only a single substitution (T→A) was found in non-coding region of IL-2 gene. Comparison of IL-2 gene sequence of all four breeds with other goat breeds showed high similarity in sequence. Ph...

Pakistan Journal of Zoology

October

Pakistan J. Zool., Vol. 56, Iss. 5, pp. 2001-2500

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