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[突尼斯脊髓小脑遗传性变性的遗传学研究。近亲结婚在其发病中的作用]

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

作者信息

Ben Hamida M, Chaabouni H, Madani S, Boussen S, Samoud S, Letaief F, Mrabet A, Hentati F, Miladi N

出版信息

J Genet Hum. 1986 Aug;34(3-4):267-74.

PMID:3760830
Abstract

The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.

摘要

对101个患有脊髓小脑遗传性变性的家族系谱进行基因分析后,作者能够明确每种临床类型的遗传传递方式。观察到弗里德赖希共济失调(69个家族中的68个)、皮埃尔 - 玛丽遗传性共济失调(15个家族)和家族性痉挛性截瘫(2个家族)呈常染色体隐性遗传。在13个受家族性痉挛性截瘫(施特吕姆佩尔 - 洛兰病)影响的家族以及仅1个患有弗里德赖希共济失调(中间型或不完全型)的家族中观察到显性遗传模式。还观察到,与突尼斯普通人群(25%)相比,这组家族中的近亲结婚率非常高。75%的弗里德赖希共济失调病例、78%的皮埃尔 - 玛丽遗传性共济失调病例以及仅61%的施特吕姆佩尔 - 洛兰家族性痉挛性截瘫病例是近亲结婚。作者得出结论,脊髓小脑遗传性变性疾病的隐性常染色体遗传与高近亲结婚率密切相关。

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