The Tunisian population history through the Crigler-Najjar type I syndrome

被引：12

作者：

Petit, Francois M. ^{[1
]}

Bezieau, Stephane ^{[2
]}

Gajdos, Vincent ^{[3
]}

Parisot, Frederic ^{[1
]}

Scoul, Catherine ^{[2
]}

Capel, Liliane ^{[1
]}

Stozinic, Volodia ^{[1
]}

Khrouf, Naima ^{[4
]}

M'Rad, Ridha ^{[5
]}

Koshy, Abraham ^{[6
,7
]}

Mollet-Boudjemline, Alix ^{[3
]}

Francoual, Jeanne ^{[1
]}

Labrune, Philippe ^{[3
]}

机构：

[1] Univ Paris 11, Antoine Beclere Hosp, AP HP, UFR Kremlin Bicetre,Dept Biochem Hormonol & Genet, F-92141 Clamart, France

[2] Fac Med, Lab Etud Polymorphisme ADN EA3823, Nantes, France

[3] Univ Paris 11, Antoine Beclere Hosp, AP HP,Dept Paediat & Genet,UFR Kremlin Bicetre, Ctr Reference Malad Hereditaires Metab Hepat, F-92141 Clamart, France

[4] Ctr Matern & Neonatol Tunis, Dept Neonatol, El Jebri, Tunisia

[5] Charles Nicolle Hosp, Dept Congenital Dis, Tunis, Tunisia

[6] Lakeshore Hosp, Div Hepatol, Maradu, Kochi, India

[7] Res Ctr Ltd, Maradu, Kochi, India

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2008年 / 16卷 / 07期

关键词：

Crigler-Najjar syndrome; founder effect; Arab world;

D O I：

10.1038/sj.ejhg.5201989

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：

Crigler-Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation c.1070A>G in exon 3 - was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two Kuwaiti Bedouin families has called the Tunisian founder effect in question again. To determine the origin of this mutation, 21 Tunisian and 2 Kuwaiti Bedouin CN-I patients were screened using nine genetic markers. Haplotype analysis confirmed the founder effect hypothesis and dated the appearance of this mutation some 32 generations ago in the Tunisian population. Using the same genetic analysis, the ancestor haplotype was identified in these two families. This result genetically confirms the blending of the Bedouin nomads within today's Tunisian population. After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities.

引用

页码：848 / 853

页数：6

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