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先天性髋关节脱位的遗传学研究。

Genetic study on the congenital dislocation of the hip.

作者信息

Higuchi F

出版信息

Bull Tokyo Med Dent Univ. 1984 Dec;31(4):195-207.

PMID:6598418
Abstract

A clinical and epidemiological study on congenital dislocation of the hip (CDH) was attempted with a genetic analysis of this condition, and the following results were obtained. The frequency of CDH in the general population is 0.08% in males and 0.59% in females, the latter being clearly higher. In examining the changes in the frequency of CDH over the years using the data reported in the literature, a statistically significant tendency for the frequency to decrease in more recent years was noted. It was confirmed by the recurrence rate of the subsequent sibling and twin data that CDH is a multifactorial disease, and, in estimating its heritability, in males h2 = 0.94-1.01 and in females h2 = 1.38, which are markedly high estimates exceeding the limit of 1. This is perhaps attributable to the small number of patients in this series and to the differences in the characteristics between the data on the frequency of CDH in the general population and those of the present pedigree study. When the corrected value of the frequency in the general population was used in estimating the heritability, in males h2 = 0.54 approximately 0.74 and in females h2 = 0.68, which are almost identical to the American data.

摘要

对先天性髋关节脱位(CDH)进行了一项临床和流行病学研究,并对该病症进行了基因分析,获得了以下结果。一般人群中CDH的发病率男性为0.08%,女性为0.59%,后者明显更高。利用文献报道的数据研究多年来CDH发病率的变化时,发现近年来发病率有统计学意义的下降趋势。通过后续同胞和双胞胎数据的复发率证实CDH是一种多因素疾病,在估计其遗传度时,男性h2 = 0.94 - 1.01,女性h2 = 1.38,这些估计值明显偏高,超过了1的极限。这可能归因于本系列患者数量较少,以及一般人群中CDH发病率数据与当前系谱研究数据在特征上的差异。当使用一般人群发病率的校正值来估计遗传度时,男性h2约为0.54至0.74,女性h2 = 0.68,这与美国的数据几乎相同。

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