Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle J P, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D
INSERM U129-ICGM, Faculté de Médecine Cochin, Paris.
Eur J Hum Genet. 1997 Mar-Apr;5(2):105-9.
Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.
诸如易位和倒位等平衡染色体异常已在许多遗传疾病中被发现。对这些异常所涉及的断点进行克隆已导致疾病相关基因的鉴定。最近的报告表明在Xq11 - 12存在一个智力迟钝基因座。我们鉴定出一名患有与轻度智力迟钝相关的平衡易位t(X;12)(q11;q15)的女性患者。我们通过使用荧光原位杂交技术鉴定出一个跨越X染色体断点的酵母人工染色体。已构建了该酵母人工染色体的黏粒文库，并且对候选基因的搜索正在进行中。
