عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
IR
۱۴۹۴پ
فارسی
IR
آنالیز پیوستگی برای شش جایگاه شایع (DFNA2, DFNA3,DFNA6,DFNA8.12,DFNA9,DFNA20.26) خانواده ناشنوا با توارث اتوزمی غالب
[پایان‌نامه]
Linkage analysis for 6 common position, DFNA2, DFNA3, DFNA6, DFNA8, DFNA20.26, in hearing loss family with autosomal dominant inheritance
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
، ۱۳۸۹
۲۴۸ص.
پیوست
چاپی
کارشناسی ارشد
ژنتیک genetic
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
1 ), and mitochondrial deafness ( at least 1 ).In this study, we chose 20 Iranian families with autosomal dominant pattern of inheritance. They are large families with more than 5 affected members in three generation. Linkage analysis method with flanking and intragenic STR markers- was used to study the following loci: DFNA2, DFNA6,DFNA20/26, DFNA9, DFNA8/12, and DFNA3, which their genes are known. We have chosen them because of their prevalence especially in Irans neighboring countries. In fact, they are the most prevalent among DFNA loci.So far, we could find three families which were linked to DFNA3 and also found a novel mutation in its gene. Following these results, we continued linkage analysis for more dominant families, and so far one of the families has been linked to DFNA2, which is also one of the most prevalent dominant loci in many populations. The mutation screening of the candidate gene is underway. In addition, the linkage analysis led us to DFNA6 for two dominant families, which is also underway for sequencing and identification of the mutation.3 out of 20 families were linked to DFNA3 (15 ), which probably shows high prevalence of this locus among Iranian Population. In addition to DFNA3 and DFNA6 loci by 15 and 10 percent of prevalence, 1 out of 20 families was linked to DFNA2 and this result agrees with previous information about prevalence of this locus(5 ) between dominant loci.ey Words: Non Syndromic hearing loss, Dominant, DFNA, Iran~80 ) , DFN ( Xlinked deafness,~15-20 ), DFNB( autosomal recessive deafness,~Hearing loss is common at all ages and can be due to environmental factors,genetic defects, or a combination of the two .The genetic basis of it, is highly complex. 70 of inherited form of hearing loss is non-syndromic, which is most often sensorineural. It can be divided into DFNA( autosomal dominant deafness,
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Linkage analysis for 6 common position, DFNA2, DFNA3, DFNA6, DFNA8, DFNA20.26, in hearing loss family with autosomal dominant inheritance
Non Syndromic hearing loss
ناشنوایی غیرسندرمی
Non Syndromic hearing loss
فتاحی، زهره
Fatahy, Zohreh
نجم‌آبادی، حسین
کهریزی، کیمیا
ایران
دانشگاه علوم توان بخشی و سلامت اجتماعی
20201229
1494.pdf
محرمانه
محرمانه
1494.pdf
9045733
مرجع
متن
0
۴۹۴۱پایا
محل نگهداری: دانشگاه علوم بهزیستی و توانبخشی
نمایه‌سازی قبلی
چاپی-الکترونیکی
TF
92029
1
a
Y
