Multiple mutations responsible for frequent genetic diseases in isolated populations

被引:43
作者
Zlotogora, Joel
机构
[1] Chaim Sheba Med Ctr, Dept Community Genet, Publ Hlth Serv, Minist Hlth, IL-52621 Tel Hashomer, Israel
[2] Hebrew Univ Jerusalem, Jerusalem, Israel
关键词
mutations; selection; founder effect; BARDET-BIEDL-SYNDROME; RECESSIVE DISEASES; IDENTIFICATION; INHERITANCE; DEAFNESS; RISK;
D O I
10.1038/sj.ejhg.5201760
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The relatively frequent existence of an autosomal recessive disease in an isolated population suggests a founder effect. However, in many cases the high frequency is due to more than one mutation in either one or several genes. Several possibilities have been raised to explain these findings: a chance phenomenon, migration of families with affected patients or digenic inheritance. Although each of these possibilities may be responsible for a few of the cases, in most they are very improbable explanations. A selective advantage may explain most of the observations even if it is difficult to prove.
引用
收藏
页码:272 / 278
页数:7
相关论文
共 27 条
[1]   Novel PRG4 Mutations Underlie CACP in Saudi Families [J].
Alazami, Anas M. ;
Al-Mayouf, Sulaiman M. ;
Wyngaard, Carol-Ann ;
Meyer, Brian .
HUMAN MUTATION, 2006, 27 (02) :213
[2]  
BACH G, 1993, AM J HUM GENET, V53, P330
[3]   Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus [J].
Bejjani, BA ;
Stockton, DW ;
Lewis, RA ;
Tomey, KF ;
Dueker, DK ;
Jabak, M ;
Astle, WF ;
Lupski, JR .
HUMAN MOLECULAR GENETICS, 2000, 9 (03) :367-374
[4]   A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village [J].
Bonafé, L ;
Giunta, C ;
Gassner, M ;
Steinmann, B ;
Superti-Furga, A .
CLINICAL GENETICS, 2003, 64 (01) :28-35
[5]  
Coucke PJ, 1999, J MED GENET, V36, P475
[6]  
CROW JF, 1995, EXP CLIN IMMUNOGENET, V12, P121
[7]  
DAVIDSON WS, 2003, PROGR OBESITY RES, V9, P323
[8]   USH1A:: Chronicle of a slow death [J].
Gerber, S ;
Bonneau, D ;
Gilbert, B ;
Munnich, A ;
Dufier, JL ;
Rozet, JM ;
Kaplan, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) :357-359
[9]  
HEINISCH U, 1995, AM J HUM GENET, V56, P51
[10]   Genetic background of congenital chloride diarrhea in high-incidence populations:: Finland, Poland, and Saudi Arabia and Kuwait [J].
Höglund, P ;
Auranen, M ;
Socha, J ;
Popinska, K ;
Nazer, H ;
Rajaram, U ;
Al Sanie, A ;
Al-Ghanim, M ;
Holmberg, C ;
de la Chapelle, A ;
Kere, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :760-768