کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2058467 1543963 2014 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی، ژنتیک و زیست شناسی مولکولی (عمومی)
پیش نمایش صفحه اول مقاله
Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India
چکیده انگلیسی

DM1 is caused by CTG repeat expansion in the 3′-UTR of the DMPK gene. DM1 patients have expansions of greater than 50 repeats and up to many thousands. The intention of the present study is the establishment of reliable and rapid polymerase chain reaction methodology in early screening of DM1 patients and their family members. PCR followed by TP-PCR was assessed for screening of 27 cases (from 26 families) and 75 family members and 300 control samples. All patients had CTG repeat expansion while forty seven (63%) and twenty eight (37%), out of seventy five family members were heterozygous and homozygous respectively. Similarly, two hundred thirty (76.77%) and seventy (23.33%), out of three hundred control subjects were heterozygous and homozygous respectively and the number of repeats varied from 5 to 35. Thirteen complete family screenings were done. Thus, TP-PCR is a reliable and rapid molecular technique for the detection of CTG repeat expansion in DM1.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Meta Gene - Volume 2, December 2014, Pages 106–113
نویسندگان
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