این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Basic Medical Sciences، جلد ۱۷، شماره ۷، صفحات ۴۷۰-۴۷۵
عنوان فارسی
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عنوان انگلیسی Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
چکیده انگلیسی مقاله Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was performed using 8% polyacrylamide gel. Candidate gene was sequenced after gene linkage supported at highly polymorphic microsatellite markers of the diseased region. Results: Both families were initially tested for linkage to known genes, which were involved in human hereditary hypotrichosis, by genotyping Highly polymorphic microsatellite markers. Family B showed partial linkage at P2RY5 gene on chromosome 13q14.11-q21.32; hence, all exonic regions and their introns boundaries were subjected to DNA sequencing for any pathogenic mutation. Conclusion:Both families were tested for linkage by genotyping polymorphic microsatellite markers linked to known alopecia loci. Family A excluded all known diseased regions that is suggestive of some novel chromosomal disorder. However, sequencing of P2RY5 gene in family B showed no pathogenic mutation.
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نویسندگان مقاله seyyedha عباس | seyyedha abbas
foundation university medical college fumc , islamabad, pakistan


بینتی خلیق نوید | abdul khaliq naveed
army medical college, national university of sciences amp;amp;technology.rawalpindi, pakistan


shakir خان | shakir khan
margalla medical and dental college, islamabad, pakistan


محمد جواد yousaf | muhammad jawad yousaf
army medical college, national university of sciences amp;amp; technology, rawalpindi, pakistan


زاهد عظیم | zahid azeem
ajk medical college, muzaffrahbad, ajk, pakistan


suhail رازک | suhail razak
biochemistry and molecular biology,army medical college, national university of sciences amp;amp; technology, rawalpindi, pakistan


فاطمه qaiser | fatima qaiser
army medical college, national university of sciences and technology, rawalpindi, pakistan
نشانی اینترنتی http://ijbms.mums.ac.ir/article_3024.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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