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唐氏综合征中触珠蛋白类型遗传的异常:母婴对的研究

An anomaly in the inheritance of haptoglobin types in Down's syndrome: a study of mother-child pairs.

作者信息

Brackenridge C J, Pitt D B

出版信息

Clin Genet. 1976 May;9(5):459-62. doi: 10.1111/j.1399-0004.1976.tb01597.x.

Abstract

A sample of 95 mother-child pairs provided evidence that plasma haptoglobin (Hp) types are inherited in an unusual manner by children with Down's syndrome. Homozygous mothers gave birth to more homozygotes and fewer heterozygotes than expected. Among offspring of heterozygous mothers, the frequencies were distributed essentially as expected. No abnormality was found in a normal control sample of 151 mother-child pairs. Using this material it was demonstrated that the anomalous Hp inheritance in Down's syndrome was not due simply to an increase in maternal age when the children were born.

摘要

对95对母婴样本的研究表明,唐氏综合征患儿血浆触珠蛋白(Hp)类型的遗传方式异常。纯合子母亲所生育的纯合子比预期的多,杂合子比预期的少。在杂合子母亲的后代中,其频率分布基本符合预期。在151对正常母婴的对照样本中未发现异常。利用这些材料证明,唐氏综合征中Hp的异常遗传并非仅仅是由于孩子出生时母亲年龄的增加。

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