英国的先天性肌强直性营养不良。II. 遗传基础。
Congenital myotonic dystrophy in Britain. II. Genetic basis.
作者信息
Harper P S
出版信息
Arch Dis Child. 1975 Jul;50(7):514-21. doi: 10.1136/adc.50.7.514.
Abstract
Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only one case, the disorder being maternally transmitted in 51 sibships. No instance of new mutation was found. At least half the sibs were unaffected; 9 sibs were affected without definite congenital involvement. No evidence for genetic heterogeneity was found, most affected mothers having few or no symptoms. There was no disturbance of sex ratio for the affected grandparents, nor in the sibships of the affected parents. The genetic data from this study and from previous published reports support the clinic evidence that the congenital form of myotonic dystrophy results from a maternal intrauterine factor affecting those individuals carrying the myotonic dystrophy gene.
摘要
对54个家系（包含70例先天性肌强直性营养不良患者）的基因分析表明，仅1例为父系遗传，51个家系为母系遗传。未发现新突变的情况。至少一半的同胞未受影响；9名同胞受影响，但无明确的先天性受累表现。未发现基因异质性的证据，大多数患病母亲几乎没有症状。患病祖父母的性别比例以及患病父母的同胞中均未出现异常。本研究及既往发表报告的基因数据支持临床证据，即先天性肌强直性营养不良是由影响携带肌强直性营养不良基因个体的母体内因素导致的。
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