Carstea E D, Polymeropoulos M H, Parker C C, Detera-Wadleigh S D, O'Neill R R, Patterson M C, Goldin E, Xiao H, Straub R E, Vanier M T
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):2002-4. doi: 10.1073/pnas.90.5.2002.
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.
我们分析了18号染色体在尼曼-匹克病C型（NPC）中的作用，这是一种常染色体隐性胆固醇加工障碍疾病。在受影响的后代中，通过使用等位基因特异性微卫星标记来确定18号染色体的亲本贡献。NPC与18p基因组标记D18S40的显著连锁通过两点连锁值3.84得以表明。对受影响个体减数分裂染色体断点模式的分析表明，NPC基因在人类18号染色体上着丝粒周围定位。
