Implications of genomic imprinting for psychiatric genetics
Implications of genomic imprinting for psychiatric genetics
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基因组印记对精神遗传学的影响
DOI：
10.1017/s0033291700032669
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发表时间：
1992
影响因子：
6.9
通讯作者：
J. Flint
中科院分区：
文献类型：
--
作者：
J. Flint
1 The genetics of psychiatric disease continues to be puzzling; what, for instance, really is the mode of transmission of schizophrenia? Is it polygenic (Gottesman & Shields, 1982)? Is it dominant but incompletely penetrant (Book, 1953), or partly dominant with incomplete penetrance (Slater, 1958); does it involve two loci with epistasis (Matthysse & Kidd, 1976), or is it none of these (O'Rourke et al. 1982)? To the cynical observer it may seem that by assuming an appropriate degree of penetrance or expressivity, any mode of inheritance can be made to fit. Possibly the disorders are heterogeneous, and understandable inheritance patterns would emerge if the correct subgroups could be identified; possibly more sophisticated analyses would help. Whatever the reason, while a genetic contribution to the functional psychoses is now not in doubt, no one has yet come up with a satisfactory model to account for the observed segregation ratios found within pedigrees. Consequently, the discovery of a new mode of transmission associated with two rare childhood syndromes (the Prader-Willi and Angelman's syndromes) should be of considerable interest to anyone interested in psychiatric genetics. Prader-Willi syndrome (PWS) accounts for about 1 % of the causes of mental handicap; it is also characterized by infantile hypotonia, hypogenitalism, and a remarkable disorder of behaviour: a hyperphagia so extreme that sufferers can actually eat themselves to death (Butler, 1990). It is not surprising that, in a disorder with somatic abnormalities and mental handicap, chromosomal anomalies have been discovered, but difficulties in establishing clear criteria for diagnosis (a problem familiar to psychiatrists) as well as the technical complexities of high-resolution chromosome analysis led to controversial claims. In 1981, following a hint that chromosome 15 abnormalities were commoner than expected in PWS, Ledbetter et al. (1981) found that four out of five cases had lost the same small band near the centromere on the long arm (referred to as ' q') of this chromosome (an abnormality designated as affecting bands 15qll to 15ql3). Subsequent investigations confirmed that the 15ql 1—15ql3 deletions were found in a large proportion of PWS, but while some research workers argued that if strict clinical criteria were applied then all PWS cases had chromosome 15 anomalies (Mattei et al. 1983; Niikawa & Ishikiriyama, 1985), others contended that less than three-quarters of patients had the deletion detected by Ledbetter (Labidi & Cassidy, 1986). Current opinion suggests that about 70 % of PWS have deletions …
影响因子：
11.1
作者：
D. Solter
通讯作者：
D. Solter
DOI：
10.1002/ajmg.1320230307
发表时间：
1986-03-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BUTLER, MG;MEANEY, FJ;PALMER, CG
通讯作者：
PALMER, CG
Angelman 综合征：用染色体 15q11q13 特异性 DNA 标记鉴定的三个分子类别。
影响因子：
9.8
作者：
Knoll,JH;Nicholls,RD;Magenis,RE;Glatt,K;GrahamJr,JM;Kaplan,L;Lalande,M
通讯作者：
Lalande,M