在一个意大利大家庭中肥厚型心肌病与16号染色体上一个脆性位点的共分离。
Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.
作者信息
Ferraro M, Scarton G, Ambrosini M
机构信息
Dipartimento di Genetica e Biologia Molecolare, Università La Sapienza, Rome, Italy.
出版信息
J Med Genet. 1990 Jun;27(6):363-6. doi: 10.1136/jmg.27.6.363.
Abstract
We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.
摘要
我们研究了一个家族中10名成员的染色体核型，在这个家族中肥厚型心肌病作为常染色体显性性状进行分离。在所有患该病的人中，发现16号染色体长臂上有一个脆性位点，其表达频率各异，但未患病的家族成员未表现出该性状。
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