Gene mapping studies with the syndrome of autism.
Gene mapping studies with the syndrome of autism.
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自闭症综合征的基因图谱研究。
DOI：
10.1007/bf01071928
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发表时间：
1985
影响因子：
2.6
通讯作者：
Freeman,BJ
中科院分区：
文献类型：
--
作者：
Spence,MA;Ritvo,ER;Marazita,ML;Funderburk,SJ;Sparkes,RS;Freeman,BJ
到1983年2月1日，加州大学洛杉矶分校自闭症遗传研究登记处已经收集了308个家庭的数据。对46个至少有两个受影响儿童的家庭的子样本进行了分析，以寻找孟德尔遗传模式的证据。这些数据与常染色体隐性遗传模式一致（Ritvo，E. R.，斯宾塞，M。一、弗里曼，B。J. Mason-Brothers，A.，密苏里州一、和Marazita，M. L.，1985年，《美国精神病学杂志》（American Journal of Psychiatry）出版。其中34个家庭进行了基因连锁分析与30个标准的表型基因标记。无论是从HLA单倍型共享分析还是从lodscores分析，都没有证据表明自闭症基因座与HLA之间存在连锁。此外，与自闭症密切相关，即，≤5%的重组，可排除19个其他常染色体遗传标记。结合珠蛋白（HP）的阳性率最高，为1.04，男性重组率为10%，女性为50%。正常的C带和Q带染色体多态性与自闭症的关联进行了评估，并作为额外的连锁标记。
The UCLA Registry for Genetic Studies of Autism had collected data on 308 families by February 1, 1983. A subsample of 46 families withat leasttwo affected children was analyzed for evidence of a Mendelian mode of inheritance. The data were consistent with an autosomal recessive mode of inheritance (Ritvo, E. R., Spence, M. A., Freeman, B. J. Mason-Brothers, A., Mo. A., and Marazita, M. L., 1985, American Journal of Psychiatry, in press). Thirty-four of these families were subjected to gene linkage analyses with 30 standard phenotypic gene markers. There is no evidence of linkage between the purported autism locus and HLA, either from analysis of HLA haplotype sharing or fromlodscores. In addition, close linkage with autism, i.e., ≤5% recombination, could be excluded for 19 of the other autosomal genetic markers. The largest positivelodscore, 1.04, was with haptoglobin (HP), at recombination frequencies of 10% in males and 50% in females. Normal C-and Q-banded chromosome polymorphisms were evaluated for association with autism and as additional linkage markers.