强直性肌营养不良症中的遗传早现：一种与父母性别相关的现象。

Anticipation in myotonic dystrophy: a parental-sex-related phenomenon.

作者信息

López de Munain A, Blanco A, Emparanza J I, Martí Massó J F, Cobo A, Basauri B, Martorell L, Baiget M, Martínez Lage J M

机构信息

Department of Neurology, Hospital Ntra. Sra de Aránzazu, San Sebastián, Guipúzcoa, Spain.

出版信息

Neuroepidemiology. 1994;13(1-2):75-8. doi: 10.1159/000110362.

DOI:10.1159/000110362

PMID:8190210

Abstract

We report anticipation in an extensive sample of myotonic dystrophy (MyD) kindreds taken from an epidemiological survey recently conducted in Guipúzcoa, Spain. Analysis of the parent-child pairs ascertained showed a mean anticipation of 2.86 decades (range 0-6). Greater anticipation occurred when the transmissor parent was the mother. These results suggest a possible sex-related effect in the transmission of the MyD gene, and are in agreement with recent discoveries at the molecular level.

摘要

我们报告了在西班牙吉普斯夸省最近进行的一项流行病学调查中选取的大量强直性肌营养不良（MyD）家族样本中的遗传早现现象。对确诊的亲子对进行分析显示，平均遗传早现为2.86个十年（范围为0 - 6）。当传递基因的亲本为母亲时，遗传早现更为明显。这些结果表明，MyD基因的传递可能存在与性别相关的效应，并且与分子水平上的近期发现一致。