Collins J S, Go R C
Department of Epidemiology and Laboratory of Medical Genetics, University of Alabama at Birmingham, USA.
Genet Epidemiol. 1997;14(6):587-92. doi: 10.1002/(SICI)1098-2272(1997)14:6<587::AID-GEPI6>3.0.CO;2-X.
In this analysis of bipolar affective disorder, 22 families from the NIMH1 data set were further grouped into three transmission patterns: male to male, male to female, and maternal. The data were analyzed under three classifications of affection status: Bipolar I (BPI) only, BPI and Bipolar II (BPII), and BPI, BPII, and recurrent unipolar. LINKAGE was run on each of the subsets, and SIBPAL was run on the full and grouped data sets. A lod score of 1.09 was found for marker D18S62 in the maternal subset, when classifying affecteds as BPI, BPII, or recurrent unipolar. Affected sib-pair analysis showed evidence for linkage with markers D18S62, D18S37, D18S53, D18S40, D18S45, and D18S56 in the male to male transmission groups and the full data set. Linkage was not consistently found in the maternal and father/daughter groups. These results indicate that subsetting by parental transmission may result in less heterogeneity and have significant effects on linkage findings. Studies using a broader definition of affection status may provide considerably more information for linkage.
在这项双相情感障碍分析中，来自美国国立精神卫生研究所（NIMH）1数据集的22个家庭被进一步分为三种遗传模式：男性到男性、男性到女性和母系遗传。数据在三种情感状态分类下进行分析：仅双相I型（BPI）、BPI和双相II型（BPII）、以及BPI、BPII和复发性单相抑郁。对每个子集运行连锁分析（LINKAGE），并对完整和分组数据集运行同胞对分析（SIBPAL）。在将受影响者分类为BPI、BPII或复发性单相抑郁时，在母系遗传子集中发现标记D18S62的对数优势比（lod）分数为1.09。受影响同胞对分析显示，在男性到男性遗传组和完整数据集中，标记D18S62、D18S37、D18S53、D18S40、D18S45和D18S56存在连锁证据。在母系遗传组和父系/女儿遗传组中未一致发现连锁。这些结果表明，按亲代遗传进行子集划分可能会减少异质性，并对连锁结果产生重大影响。使用更广泛的情感状态定义进行研究可能会为连锁提供更多信息。
