儿童期慢性起病型脊髓性肌萎缩症的基因定位至5号染色体q11.2 - 13.3区域。

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

作者信息

Brzustowicz L M, Lehner T, Castilla L H, Penchaszadeh G K, Wilhelmsen K C, Daniels R, Davies K E, Leppert M, Ziter F, Wood D

机构信息

Department of Psychiatry, Columbia University, New York, New York.

出版信息

Nature. 1990 Apr 5;344(6266):540-1. doi: 10.1038/344540a0.

DOI:10.1038/344540a0

PMID:2320125

Abstract

SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the alpha-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex. We have now analysed 13 clinically heterogeneous SMA families. We find that 'chronic' childhood-onset SMA (including intermediate SMA or SMA type II, and Kugelberg-Welander or SMA type III) is genetically homogeneous, mapping to chromosomal region 5q11.2-13.3.

摘要

脊髓性肌萎缩症（SMA）是一组遗传性退行性疾病，其选择性地影响α运动神经元。在常染色体隐性疾病中，儿童期发病的SMA在发病率上仅次于囊性纤维化，是遗传性婴儿死亡的主要原因。关于SMA类型差异的基础是基因异质性的预测，以及最严重婴儿型的侵袭性本质，使得SMA的连锁分析可能很复杂。我们现在分析了13个临床异质性SMA家系。我们发现，“慢性”儿童期发病的SMA（包括中间型SMA或II型SMA，以及Kugelberg-Welander或III型SMA）在基因上是同质的，定位于染色体区域5q11.2 - 13.3。