Mishra S K, Helms C, Dorsey D, Permutt M A, Donis-Keller H
Genetics Department, Washington University School of Medicine, St. Louis, Missouri 63110.
Genomics. 1992 Feb;12(2):326-34. doi: 10.1016/0888-7543(92)90381-2.
A new high-resolution genetic linkage map for human chromosome 7p has been constructed. The map is composed of 47 loci (54 polymorphic systems), 19 of which are uniquely placed with odds of at least 1000:1. Four genes are represented, including glucokinase (GCK, ATP:D-hexose-6-phosphotransferase, EC 2.7.1.2) which was mapped via a (CA)n dinucleotide repeat polymorphism. The sex-average map measures 94.4 cM and the male and female maps measure 73.2 and 116.1 cM, respectively. We believe that the genetic map extends nearly the full length of the short arm of chromosome 7 since a centromere marker has been incorporated, and the most distal marker, D7S21, has been cytogenetically localized by in situ hybridization to 7p22-pter. The average marker spacing is 2 cM, and the largest interval between uniquely placed markers is 13 cM (sex-average map). Overall, female recombination was observed to be about 1.5 times that of males, and a statistically significant sex-specific recombination frequency was found for a single interval. The map is based on genotypic data gathered from 40 CEPH reference pedigrees and was constructed using the CRI-MAP program package. The map presented here represents a combined and substantially expanded dataset compared to previously published chromosome 7 maps, and it will serve as a "baseline" genetic map that should prove useful for future efforts to develop a 1-cM map and for construction of a contiguous clone-based physical map for this chromosome.
已构建出一张新的人类7号染色体短臂高分辨率遗传连锁图谱。该图谱由47个位点(54个多态系统)组成,其中19个位点的定位具有至少1000:1的优势比。图谱中包含四个基因,其中葡萄糖激酶(GCK,ATP:D-己糖-6-磷酸转移酶,EC 2.7.1.2)是通过(CA)n二核苷酸重复多态性进行定位的。性别平均图谱长度为94.4厘摩,男性和女性图谱长度分别为73.2厘摩和116.1厘摩。我们认为该遗传图谱几乎覆盖了7号染色体短臂的全长,因为已纳入了一个着丝粒标记,并且最远端的标记D7S21已通过原位杂交细胞遗传学定位到7p22-末端。平均标记间距为2厘摩,唯一定位标记之间的最大间隔为13厘摩(性别平均图谱)。总体而言,观察到女性重组率约为男性的1.5倍,并且在一个单一区间发现了具有统计学意义的性别特异性重组频率。该图谱基于从40个CEPH参考家系收集的基因型数据,使用CRI-MAP程序包构建而成。与先前发表的7号染色体图谱相比,此处展示的图谱代表了一个合并且大幅扩展的数据集,它将作为一张“基线”遗传图谱,对未来构建1厘摩图谱以及基于连续克隆的该染色体物理图谱的工作应会很有用。