一名复合杂合子中早发性弗里德赖希共济失调
Early onset of Friedreich's ataxia in a compound heterozygote.
作者信息
McGovern M C, Stewart M, Morrison P J, Webb D, Hawkins S
机构信息
Craigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK.
出版信息
Arch Dis Child. 2000 Jul;83(1):74-5. doi: 10.1136/adc.83.1.74.
Abstract
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.
摘要
弗里德赖希共济失调（FA）是一种常染色体隐性疾病，由9号染色体上X25基因中的GAA三核苷酸重复扩增引起。我们描述了一种不寻常的“假显性”遗传形式，以说明父母一方被诊断为FA并不排除孩子也被诊断为此病的可能性。
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本文引用的文献
1
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.弗里德赖希共济失调GAA三核苷酸重复序列的表型相关性及代际动态变化
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.弗里德赖希共济失调：一种由内含子GAA三联体重复扩增引起的常染色体隐性疾病。
Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.
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'Pseudo-dominant' inheritance in Friedreich's ataxia.弗里德赖希共济失调中的“假显性”遗传
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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.弗里德赖希共济失调：对90个家庭的临床与遗传学研究，分析早期诊断标准及临床特征的家族内聚集情况。
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