Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q

Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with recurrent genomic recombination involving low copy repeats (LCRs) located in the human chromosome 15q11-q13. Previous studies of PWS patients from Asia suggested that there is a higher incidence of deletion and lower incidence of...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Lin, Shuan Pei., Ho, Shi Yun., Chen, Yen Jiun., Huang, Chi Yu., Chiu, Hui Ching., Chuang, Chih Kuang., Hou, Aihua., Chen, Jennifer Chi Fung., Lin, Hsiang Yu., Chen, Ken-Shiung.
مؤلفون آخرون: School of Biological Sciences
التنسيق: مقال
اللغة:English
منشور في: 2011
الموضوعات:
الوصول للمادة أونلاين:https://hdl.handle.net/10356/94104
http://hdl.handle.net/10220/7172
الوسوم: إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
الوصف
الملخص:Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with recurrent genomic recombination involving low copy repeats (LCRs) located in the human chromosome 15q11-q13. Previous studies of PWS patients from Asia suggested that there is a higher incidence of deletion and lower incidence of maternal uniparental disomy (mUPD) compared to that of Western populations. Despite a lack of data from Asians regarding the incident of deletion subtypes to allow for further comparison, it has previously been proposed that ethnic differences in genomic architecture may be responsible for the discrepancy in genetic etiology observed. In this report, we present genetic etiology of twenty-eight PWS patients from Taiwan. Consistent with the genetic etiology findings from Western populations, the type II deletion appears to be the most common deletion subtype.