Grigoroiu-Serbanescu M, Martinez M, Nöthen M M, Propping P, Milea S, Mihailescu R, Marinescu E
Psychiatric Research Laboratory, Marinescu Psychiatric Hospital, Bucharest, Romania.
Am J Med Genet. 1998 Sep 7;81(5):397-404.
Two recent studies [McMahon et al., 1995: Am J Hum Genet 56:1277-1286; Gershon et al., 1996: Am J Med Genet (Neuropsychiatr Genet) 67:202-207] reported an excess of maternal transmission in bipolar affective disorder in multiply affected families. In a sample of 130 families ascertained through a bipolar proband without regard to psychiatric family history we analysed the frequency of maternal (MAT) and paternal (PAT) transmissions, the morbid risk (MR) in relatives of transmitting mothers and fathers and the inheritance patterns in families with MAT vs. PAT transmission of the disease. In the total sample of 130 families we identified 39 families where the disease was transmitted from the paternal side (PAT families) and 35 families where the disease was transmitted from the maternal side (MAT families). Counting PAT and MAT transmissions in these unilineal families we found nearly equal numbers for both transmission types under a narrow (BP: bipolar disorder, schizoaffective-bipolar type disorder) and a broad definition (AFF: BP, recurrent unipolar depression) of the phenotype. The MRs for narrow and broad phenotypes were not significantly different in any type of PAT relative in PAT families vs. MAT relatives in MAT families. However, in PAT families there were two times more affected females than males with both disease models, while in MAT families there was no MR difference by relatives' sex. The transmission of BP was compatible with the Mendelian major gene model in PAT families and with the multifactorial model in MAT families. Extension of the relatives' phenotype led to borderline non-Mendelian major effects in PAT families and reproduced the multifactorial model in MAT families.
最近的两项研究[麦克马洪等人，1995年：《美国人类遗传学杂志》56:1277 - 1286；格申等人，1996年：《美国医学遗传学杂志（神经精神遗传学）》67:202 - 207]报告称，在多病例家庭的双相情感障碍中，母系遗传过多。在一个通过双相情感障碍先证者确定的130个家庭样本中，不考虑精神疾病家族史，我们分析了母系（MAT）和父系（PAT）遗传的频率、传递母亲和父亲的亲属中的患病风险（MR）以及疾病MAT与PAT遗传家庭的遗传模式。在130个家庭的总样本中，我们确定了39个疾病从父系遗传的家庭（PAT家庭）和35个疾病从母系遗传的家庭（MAT家庭）。在这些单系遗传家庭中计算PAT和MAT遗传情况，我们发现在该表型的狭义定义（BP：双相情感障碍，分裂情感性双相型障碍）和广义定义（AFF：BP，复发性单相抑郁）下，两种遗传类型的数量几乎相等。PAT家庭中任何类型的PAT亲属与MAT家庭中的MAT亲属相比，狭义和广义表型的MR没有显著差异。然而，在PAT家庭中，两种疾病模型下受影响的女性都比男性多两倍，而在MAT家庭中，亲属性别对MR没有差异。BP的遗传在PAT家庭中符合孟德尔主基因模型，在MAT家庭中符合多因素模型。亲属表型的扩展导致PAT家庭出现临界非孟德尔主效应，并在MAT家庭中重现了多因素模型。
