کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905046 | 1569520 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf](/preview/png/5905046.png)
چکیده انگلیسی
Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. Studying seven multiplex consanguineous families from the Arabic peninsula (Kuwait and Qatar) we found that most patients were homozygote for a c.498insC mutation in exon 5. The others carried a novel mutation IVS4-2A â G. Both mutations were predicted to truncate the C-terminal domain necessary to anchorage of EPCAM at the intercellular membrane. Consistently, immunohistochemistry of intestinal biopsies failed to detect the EPCAM protein at the intercellular membrane level. The c.498insC mutation was found on the background of a minimal common haplotype of 473 kb suggesting a very old founder effect (5000-6000 yrs).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 319-322
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 319-322
نویسندگان
Julie Salomon, Yolanda Espinosa-Parrilla, Olivier Goulet, Wafa'a Al-Qabandi, Philippe Guigue, Danielle Canioni, Julie Bruneau, Fatema Alzahrani, Saleh Almuhsen, Nadine Cerf-Bensussan, Marc Jeanpierre, Nicole Brousse, Stanislas Lyonnet, Arnold Munnich,