Webb T, Clarke A, Hanefeld F, Pereira J L, Rosenbloom L, Woods C G
Department of Clinical Genetics, Birmingham Maternity Hospital, UK.
J Med Genet. 1998 Dec;35(12):997-1003. doi: 10.1136/jmg.35.12.997.
A whole X chromosome study of families in which Rett syndrome had been diagnosed in more than one member indicated that the region between Xq27 and Xqter was the most likely region to harbour a gene which may be involved in the aetiology of the disease. Further, more detailed studies of Xq28 detected weak linkage and a higher than expected sharing of maternally inherited alleles. It is suggested that there may be more than one gene involved in the aetiology of this syndrome, particularly as the very rare families in which more than one girl is affected often show variable clinical symptoms.
一项针对多个成员被诊断患有雷特综合征的家庭进行的全X染色体研究表明，Xq27和Xqter之间的区域最有可能含有一个可能与该疾病病因有关的基因。此外，对Xq28更详细的研究发现了弱连锁以及母系遗传等位基因的共享率高于预期。有人提出，这种综合征的病因可能涉及多个基因，特别是在极少数有不止一个女孩受影响的家庭中，往往表现出不同的临床症状。
