Oehlmann R, Zlotogora J, Wenger D A, Knowlton R G
Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.
Am J Hum Genet. 1993 Dec;53(6):1250-5.
The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14. Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC. Two-point linkage analysis demonstrated close linkage of GALC and D14S48, with Z = 13.69 at theta = 0. Multipoint analysis yielded strong support for this finding, with maximum likelihood for GALC located within 1 cM of D14S48. This analysis also identified markers that clearly flank the GALC locus, as the map order of D14S53-GALC-D14S45 is favored by odds greater than 10(6):1. Additional support for close linkage of GALC and D14S48 comes from the apparent linkage disequilibrium between these two loci in a consanguineous Druze community in Israel. These data localize GALC to 14q24.3-q32.1.
导致克拉伯病（一种因半乳糖脑苷脂酶（GALC）缺乏引起的常染色体隐性疾病）的基因，通过在14号染色体上的多点连锁分析进行了定位。对8个已定位的二核苷酸重复多态性进行了与GALC的连锁测试。两点连锁分析表明GALC与D14S48紧密连锁，在θ = 0时Z = 13.69。多点分析为这一发现提供了有力支持，GALC的最大似然位置在D14S48的1厘摩范围内。该分析还确定了明显位于GALC基因座两侧的标记，因为D14S53 - GALC - D14S45的图谱顺序支持率大于10(6):1。GALC与D14S48紧密连锁的额外支持来自以色列一个近亲德鲁兹社区中这两个基因座之间明显的连锁不平衡。这些数据将GALC定位于14q24.3 - q32.1。
