Lobos E A, Todd R D
Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Am J Med Genet. 1997 May 31;74(3):289-95. doi: 10.1002/(sici)1096-8628(19970531)74:3<289::aid-ajmg10>3.0.co;2-k.
We evaluated the involvement of tyrosine hydroxylase (TH) mutations in susceptibility to manic-depressive disease (MDD) and alcoholism (ALC) with a cladistics-based association analysis. Eighty-one probands with MDD, 113 probands with alcoholism, and 80 normal controls were tested for differences in frequency of nine haplotypes at the TH locus. The haplotypes were comprised of four restriction fragment length polymorphisms spanning the TH gene. A cladogram constructed from the haplotypes provided the evolutionary context for a nested statistical analysis. Statistically significant evidence was found for association of a subgroup of the sample for each of the disorders with different branches of the gene tree, but the findings were sensitive to minor changes in estimated haplotype frequencies.
我们通过基于分支系统学的关联分析，评估了酪氨酸羟化酶（TH）突变在躁郁症（MDD）和酒精中毒（ALC）易感性中的作用。对81名躁郁症先证者、113名酒精中毒先证者和80名正常对照进行检测，以分析TH基因座处9种单倍型的频率差异。这些单倍型由跨越TH基因的4个限制性片段长度多态性组成。根据单倍型构建的分支图为嵌套统计分析提供了进化背景。发现每种疾病的样本亚组与基因树的不同分支存在统计学上的显著关联证据，但这些发现对估计的单倍型频率的微小变化很敏感。
