Hayden M R, Hewitt J, Wasmuth J J, Kastelein J J, Langlois S, Conneally M, Haines J, Smith B, Hilbert C, Allard D
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Hum Genet. 1988 Jan;42(1):125-31.
A polymorphic marker (D4S62) that is genetically closely linked to D4S10 and is in the region of the gene for Huntington disease is described. A four-allele polymorphism is detected when HincII-digested DNA is hybridized with D4S62. D4S62 maps, by Southern blot analysis using somatic-cell hybrids, to 4p16.1 closer to the centromere than does D4S10. The use of the polymorphisms detected by D4S62 increases the informativeness of markers close to the gene for Huntington disease and will be useful for preclinical diagnosis. D4S62 detects transcripts of approximately 6,000 nucleotides in rat, mouse, and monkey liver and brain. This represents the first demonstration of conserved expressed sequences close to the gene for Huntington disease.
本文描述了一种与D4S10基因紧密连锁且位于亨廷顿病基因区域的多态性标记(D4S62)。用HincII消化的DNA与D4S62杂交时,可检测到一种四等位基因多态性。通过使用体细胞杂种进行Southern印迹分析,D4S62定位于4p16.1,比D4S10更靠近着丝粒。D4S62检测到的多态性的应用增加了靠近亨廷顿病基因的标记的信息含量,将有助于临床前诊断。D4S62在大鼠、小鼠和猴的肝脏及脑中检测到约6000个核苷酸的转录本。这是首次证明在靠近亨廷顿病基因处存在保守的表达序列。