X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees.
X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees.
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X 染色体标记和躁狂抑郁症。
DOI：
10.1001/archpsyc.1990.01810160066010
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发表时间：
1990
影响因子：
--
通讯作者：
S. Detera
中科院分区：
文献类型：
--
作者：
W. Berrettini;L. Goldin;J. Gelernter;P. Gejman;E. Gershon;S. Detera
关于q28区域的X染色体标记（包括原色盲和Deutan色盲[CB]和葡萄糖-6-磷酸脱氢酶缺乏症）与躁狂抑郁症的联系，已经发表了许多报告。我们研究了9个双极家系（其中没有男性到男性的传输），试图检测连锁，使用三个紧密连锁的多态性DNA位点，DXS 15，DXS 52和F8 C（因子8基因），所有这些都是紧密连锁的CB和葡萄糖6-磷酸脱氢酶经典Xq 28标记。在这九个家族中，可以明确排除与Xq 28该区域的联系。当这些数据与我们早期的一系列双极家系相结合时，无论是protan还是deutan CB，总共有14个双极家系被研究，没有证据表明连锁或异质性。在重组分数（θ）为1%时，如果研究的家系中只有50%与CB区域连锁，则该系列具有大于95%的检测连锁的能力。我们未能证实先前报道的躁狂抑郁症与X染色体CB区域的连锁，表明这种连锁并不像以前所认为的那样普遍。
Numerous reports have been published concerning linkage of X-chromosome markers of the q28 region (including protan and deutan color blindness [CB] and glucose-6-phosphate dehydrogenase deficiency) to manic-depressive illness. We studied nine bipolar pedigrees (in which there was no male-to-male transmission) in an attempt to detect linkage, using three tightly linked polymorphic DNA loci, DXS15, DXS52 and F8C (factor 8 gene), all of which are closely linked to the CB and glucose 6-phosphate dehydrogenase classic Xq28 markers. Linkage to this region of Xq28 could be excluded unequivocally in these nine families. When these data were combined with our earlier series of bipolar pedigrees, informative for either protan or deutan CB, a total of 14 bipolar pedigrees have been studied, with no evidence of linkage or heterogeneity. At a recombination fraction (theta) of 1%, this series had greater than 95% power to detect linkage if only 50% of the pedigrees studied were linked to the CB region. Our failure to confirm the previously reported linkage of manic-depressive illness to the CB region of the X chromosome indicates that this linkage is not as common as previously suggested.
评估 X 连锁遗传在双相情感障碍相关的重大情感障碍中的作用。
影响因子：
4.8
作者：
Risch,N;Baron,M;Mendlewicz,J
通讯作者：
Mendlewicz,J