Curtis A R, Headland S, Lindsay S, Thomas N S, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Hum Genet. 1993 Jan;90(5):551-5. doi: 10.1007/BF00217457.
Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level.
对四个家庭进行了分析，每个家庭中有两名个体患有瑞特综合征（RS），分析采用了来自X染色体的限制性片段长度多态性和微卫星标记。在其中两个家庭中，可以假定RS缺陷是由生殖系嵌合的母亲以X连锁显性方式遗传的。因此，利用显示不一致遗传的母源X染色体标记来排除X染色体上作为RS基因位置的区域。X染色体短臂的大部分区域可以被排除，包括含有三个候选基因（鸟氨酸氨基甲酰转移酶、突触素1和突触小泡蛋白）的区域。虽然X染色体长臂的大部分是共同遗传的，但有可能排除一个着丝粒区域。还展示了两个患病的姨侄对家庭的X染色体标记遗传情况，其中一个家庭此前尚未在DNA水平上进行研究。
