Dean M, Lucas-Derse S, Bolos A, O'Brien S J, Kirkness E F, Fraser C M, Goldman D
Biological Carcinogenesis and Development Program Incorporated/Dyncorp, Frederick, MD.
Am J Hum Genet. 1991 Sep;49(3):621-6.
As more coding loci for functional human genes are described, there is a growing need to identify DNA polymorphisms in specific genes. By examining DNA sequences within the introns of the beta 1 subunit of the gamma-aminobutyric acid receptor gene, GABARB1, we found a tetranucleotide repeat sequence (GATA). Amplification of this region by using PCR revealed seven alleles and a high degree of polymorphism (PIC = .75) in human populations. DNAs from the CEPH families were typed for the GABARB1 intron polymorphism and were analyzed with respect to 20 linked markers on chromosome 4. The results permit placement of GABARB1 on the linkage map of chromosome 4, between D4S104 and ALB. These results affirm that sequence analysis of noncoding segments included within or adjacent to functional genes has value as a strategy to detect highly informative polymorphisms.
随着越来越多的功能性人类基因编码位点被描述出来，鉴定特定基因中的DNA多态性的需求也日益增长。通过检查γ-氨基丁酸受体基因GABARB1的β1亚基内含子中的DNA序列，我们发现了一个四核苷酸重复序列（GATA）。使用PCR扩增该区域，结果显示在人类群体中有七个等位基因和高度多态性（PIC = 0.75）。对CEPH家族的DNA进行GABARB1内含子多态性分型，并针对4号染色体上的20个连锁标记进行分析。结果表明GABARB1可定位于4号染色体的连锁图谱上，位于D4S104和ALB之间。这些结果证实，对功能基因内部或邻近的非编码片段进行序列分析，作为一种检测高信息多态性的策略具有重要价值。
