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Genetic study of indirect inguinal hernia.

机译:间接腹股沟疝的遗传学研究。

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摘要

We performed a genetic analysis of 280 families with congenital indirect inguinal hernia ascertained in Shandong province. The multifactorial threshold model and segregation analysis were applied to these families to investigate the mode of inheritance of congenital indirect inguinal hernia. Our results indicate that congenital indirect inguinal hernia is not compatible with a multifactorial threshold model, and the frequent vertical transmission and high segregation ratio suggest autosomal dominant inheritance with incomplete penetrance and sex influence. Through further pedigree analysis of the multiple case families with at least two closely related affected members, we noted preferential paternal transmission of the disease gene, which might suggest the role of genomic imprinting in the aetiology of this condition.
机译:我们对山东省确定的280例先天性间接腹股沟疝的家庭进行了基因分析。将多因素阈值模型和隔离分析应用于这些家庭,以研究先天性间接腹股沟疝的遗传方式。我们的结果表明,先天性间接性腹股沟疝与多因素阈值模型不兼容,并且频繁的垂直传播和高隔离比表明常染色体显性遗传不具有穿透性和性别影响。通过对具有至少两个密切相关的受影响成员的多病例家族的进一步血统分析,我们注意到该疾病基因的父系优先传播,这可能暗示了基因组印记在这种情况的病因学中的作用。

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