Risch N, Baron M
Ann Hum Genet. 1982 May;46(2):153-66. doi: 10.1111/j.1469-1809.1982.tb00706.x.
It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and genetic heterogeneity. In this report, recently published pedigree series are reanalysed for linkage using a systematic method of pedigree analysis (Liped 3) with an accurate age-of-onset correction. Linkage heterogeneity is assessed through a two-recombination fraction heterogeneity test suggested by Smith (1963). The results are as follows: (1) Close linkage of bipolar illness to colourblindness (deutan and protan) and glucose-6-phosphate dehydrogenase deficiency appears to be present in some pedigrees, with estimated recombination fractions of theta = 0.05 and 0.00, respectively; (2) Linkage with the Xg blood group cannot be supported. These results are consistent with known linkages on the X chromosome.
有人提出，一种X连锁显性等位基因在双相（躁狂抑郁）障碍的遗传传递中起作用。利用X染色体标记进行的连锁研究结果尚无定论，既有阳性结果也有阴性结果。部分模糊性可能归因于分析方法不精确和遗传异质性。在本报告中，我们使用系统的系谱分析方法（Liped 3）并进行准确的发病年龄校正，对最近发表的系谱系列进行连锁重新分析。通过史密斯（1963年）提出的双重组分数异质性检验来评估连锁异质性。结果如下：（1）在一些家系中，双相障碍与红绿色盲（绿色盲和红色盲）以及葡萄糖-6-磷酸脱氢酶缺乏症似乎存在紧密连锁，估计重组分数分别为θ = 0.05和0.00；（2）无法支持与Xg血型的连锁关系。这些结果与X染色体上已知的连锁关系一致。
