Kozman H M, Phillips H A, Callen D F, Sutherland G R, Mulley J C
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
Cytogenet Cell Genet. 1993;62(4):194-8. doi: 10.1159/000133474.
A comprehensive genetic linkage map constructed from 50 loci represented by 68 markers was anchored to 50 cytogenetically defined intervals on human chromosome 16. The linear order of the loci on the cytogenetic map was compatible with the independently derived linear order on the genetic map. The sex-averaged genetic length is 164.5 cM, with an average distance between loci of 3.3 cM. Sex-specific distances are 132.8 cM in males and 201.8 cM in females. This is the first detailed synthesis of genetic and cytogenetic maps for any human chromosome and is the first step in correlating the genetic and physical maps of this chromosome. The combined map, containing 15 loci with a minimum heterozygosity of 60% and 6 PCR-formatted microsatellite markers, will be useful for assignment and regional localization of disease genes to this chromosome.
由68个标记代表的50个基因座构建的综合遗传连锁图谱被定位到人类16号染色体上50个细胞遗传学定义的区间。细胞遗传图谱上基因座的线性顺序与遗传图谱上独立推导的线性顺序一致。性别平均遗传长度为164.5厘摩，基因座间平均距离为3.3厘摩。男性的性别特异性距离为132.8厘摩，女性为201.8厘摩。这是任何人类染色体的遗传图谱和细胞遗传图谱的首次详细整合，也是使该染色体的遗传图谱和物理图谱相互关联的第一步。包含15个最小杂合度为60%的基因座和6个PCR格式微卫星标记的综合图谱，将有助于疾病基因在该染色体上的定位和区域定位。
