范可尼贫血：20号染色体长臂上连锁异质性的证据。

Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q.

作者信息

Mann W R, Venkatraj V S, Allen R G, Liu Q, Olsen D A, Adler-Brecher B, Mao J I, Weiffenbach B, Sherman S L, Auerbach A D

机构信息

Laboratory for Investigative Dermatology, Rockefeller University, New York, New York 10021.

出版信息

Genomics. 1991 Feb;9(2):329-37. doi: 10.1016/0888-7543(91)90261-c.

DOI:10.1016/0888-7543(91)90261-c

PMID:2004784

Abstract

Fanconi anemia is a rare autosomal recessive disorder in which affected individuals are predisposed to acute myelogenous leukemia and other malignancies. We report the results of a genetic linkage study involving 34 families enrolled in the International Fanconi Anemia Registry. A significant lod score was obtained between D20S20, an anonymous DNA segment from chromosome 20q, and Fanconi anemia (Zmax 3.04, theta max = 0.12). However, six other anonymous DNA segments from chromosome 20q, including D20S19, which is highly polymorphic and tightly linked to D20S20, showed no or only weak evidence for linkage to Fanconi anemia. An admixture test revealed significant evidence for linkage heterogeneity (chi 2 = 6.10, P = 0.01) at the D20S19 locus. Lod scores suggestive of linkage between Fanconi anemia and this locus were obtained with two of the largest kindreds studied (lods = 2.6 and 2.1, at theta = 0.001). Thus, our data support the provisional assignment of a Fanconi anemia gene to chromosome 20q.

摘要

范可尼贫血是一种罕见的常染色体隐性疾病，患者易患急性髓性白血病和其他恶性肿瘤。我们报告了一项基因连锁研究的结果，该研究涉及国际范可尼贫血登记处登记的34个家庭。在位于20号染色体q臂的一个匿名DNA片段D20S20与范可尼贫血之间获得了显著的连锁对数计分（Zmax = 3.04，θmax = 0.12）。然而，来自20号染色体q臂的其他6个匿名DNA片段，包括多态性高且与D20S20紧密连锁的D20S19，未显示或仅显示与范可尼贫血连锁的微弱证据。一项混合检验在D20S19位点揭示了连锁异质性的显著证据（χ2 = 6.10，P = 0.01）。在研究的两个最大的家系中获得了提示范可尼贫血与该位点连锁的连锁对数计分（在θ = 0.001时，连锁对数计分分别为2.6和2.1）。因此，我们的数据支持将一个范可尼贫血基因暂时定位于20号染色体q臂。