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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