Localisation of a Fanconi anaemia gene to chromosome 9p

被引：13

作者：

Saar, K

Schindler, D

Wegner, RD

Reis, A

Wienker, TF

Hoehn, H

Joenje, H

Sperling, K

Digweed, M ^{[1
]}

机构：

[1] Humboldt Univ, Inst Human Genet, Charite Campus Virchow Klinikum,Augustenburger Pl, D-13353 Berlin, Germany

[2] Max Delbruck Ctr Mol Med, Microsatellite Ctr, Berlin, Germany

[3] Free Univ Amsterdam, Dept Human Genet, Amsterdam, Netherlands

[4] Univ Wurzburg, Dept Human Genet, Biozentrum, D-8700 Wurzburg, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 05期

关键词：

Fanconi anaemia; genetic heterogeneity; homozygosity mapping; chromosome; 9p;

D O I：

10.1038/sj.ejhg.5200241

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：

Using homozygosity mapping in a large consanguineous family, we have localised to chromosome 9p a further gene for the autosomal recessive, genetically heterogeneous disease Fanconi anaemia (FA). This is the fourth of at least eight FA genes to be localised to a discrete chromosomal region. previously localised genes are FAA, FAC and FAD. By analysis of assigned families we show that the gene localised to chromosome 9p is FAF, FAG or FAH, or a new FA gene, and refine the localisation to the 21 cM region between markers D9S1678 and D9S175.

引用

页码：501 / 508

页数：8

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