Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Molecular basis of autosomal recessive diseases among the Palestinian Arabs

Molecular basis of autosomal recessive diseases among the Palestinian Arabs In the review of the literature, 71 different autosomal recessive diseases have been delineated that are relatively frequent among Palestinian Arabs. Among those, in 40 the mutation(s) responsible for the diseases are known. Fourteen of these disorders were caused by a single mutation, while the other 26 were due to multiple mutations. Most of the mutations were found in homozygosity among the affected patients. It is probable that the high frequency of most of the genetic diseases among the Palestinian Arabs is due to a founder effect as the result of the high consanguinity rates in this population. However, in some cases the high frequency was demonstrated to be secondary to the presence of multiple mutations, either allelic or in different genes in a small geographic region. This phenomenon remains unexplained but may be secondary to a selective advantage to the carriers, either specific to the region or to the population. © 2002 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Molecular basis of autosomal recessive diseases among the Palestinian Arabs

Download PDF
7 pages

Loading next page...
 
/lp/wiley/molecular-basis-of-autosomal-recessive-diseases-among-the-palestinian-3AaCh6h2lT

References (80)

Publisher
Wiley
Copyright
Copyright © 2002 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.10328
pmid
11977175
Publisher site
See Article on Publisher Site

Abstract

In the review of the literature, 71 different autosomal recessive diseases have been delineated that are relatively frequent among Palestinian Arabs. Among those, in 40 the mutation(s) responsible for the diseases are known. Fourteen of these disorders were caused by a single mutation, while the other 26 were due to multiple mutations. Most of the mutations were found in homozygosity among the affected patients. It is probable that the high frequency of most of the genetic diseases among the Palestinian Arabs is due to a founder effect as the result of the high consanguinity rates in this population. However, in some cases the high frequency was demonstrated to be secondary to the presence of multiple mutations, either allelic or in different genes in a small geographic region. This phenomenon remains unexplained but may be secondary to a selective advantage to the carriers, either specific to the region or to the population. © 2002 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Jan 1, 2002

Keywords: ; ; ;

There are no references for this article.