A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter

Mehmet Simsek, Nadia Al-Wardy, Aisha Al-Khayat, Mazin Al-Khabory

نتاج البحث: المساهمة في مجلةمراجعة النظراء

4 اقتباسات (Scopus)

ملخص

Comparisons of Connexin-26 (GJB2) gene sequences available in the GenBank data base indicate the presence of a polymorphism in the promoter, but no easy method is available for the detection of this polymorphism. We have developed a PCR-RFLP test for simultaneous detection of two single nucleotide insertions (G and A) in the GJB2 promoter. The test is based on amplification of a 146-bp DNA fragment, which was digested with Mae I to detect the G insertion in the promoter. A similar digestion with Hinf I detects the A insertion. The test was validated using direct DNA sequencing of amplified DNA from 33 samples. After validation, we have used it to investigate DNA samples from 160 control subjects and 51 unrelated patients with nonsyndromic autosomal recessive deafness. All of the samples analyzed using the PCR test and DNA sequencing were found to contain both the G and A insertions in the GJB2 gene promoter. This PCR test will be useful in studying the prevalence of these two insertions in other populations.

اللغة الأصليةEnglish
الصفحات (من إلى)225-228
عدد الصفحات4
دوريةGenetic Testing
مستوى الصوت6
رقم الإصدار3
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2002

ASJC Scopus subject areas

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