对62个X染色体位点进行连锁分析，排除了一个冰岛家族中的X染色体，该家族显示神经管缺陷具有明显的X连锁隐性遗传特征。

Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects.

作者信息

Newton R, Stanier P, Loughna S, Henderson D J, Forbes S A, Farrall M, Jensson O, Moore G E

机构信息

Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, London, UK.

出版信息

Clin Genet. 1994 May;45(5):241-9. doi: 10.1111/j.1399-0004.1994.tb04149.x.

DOI:10.1111/j.1399-0004.1994.tb04149.x

PMID:8076409

Abstract

We report here the findings of a linkage analysis, involving numerous markers from the human X chromosome, in an attempt to localise a putative gene causing apparent X-linked spina bifida and anencephaly (SBA) in a large Icelandic pedigree. Two-point linkage analysis was performed using markers from 62 informative loci in this family. Although small positive lod scores were found at a number of these loci, none reached the significance level for linkage. Haplotypes were extensively analysed and found to exclude linkage to the X chromosome.

摘要

我们在此报告一项连锁分析的结果，该分析涉及人类X染色体上的众多标记，旨在定位一个假定基因，该基因在一个大型冰岛家系中导致明显的X连锁脊柱裂和无脑畸形（SBA）。使用来自该家族62个信息位点的标记进行两点连锁分析。尽管在其中一些位点发现了小的正lod分值，但没有一个达到连锁的显著水平。对单倍型进行了广泛分析，发现排除了与X染色体的连锁。