Blumenfeld A, Axelrod F B, Trofatter J A, Maayan C, Lucente D E, Slaugenhaupt S A, Liebert C B, Ozelius L J, Haines J L, Breakefield X O
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Boston 02129.
J Med Genet. 1993 Jan;30(1):47-52. doi: 10.1136/jmg.30.1.47.
Familial dysautonomia (FD) is a recessive neurological disorder that affects the development of the sensory and autonomic nervous system. The gene defect appears to be limited to the Ashkenazi Jewish population, where the carrier frequency is 1 in 30. One hundred and ninety-one marker loci representing all autosomes were tested for linkage with the FD genetic defect in 23 families. A combination of pairwise and multipoint analyses excluded the FD gene from at least 60% of the autosomal genome. The program EXCLUDE predicted regions of chromosomes 2, 4, 5q, 9, or 10 as the most promising locations for future analyses.
家族性自主神经功能异常（FD）是一种隐性神经疾病，会影响感觉和自主神经系统的发育。该基因缺陷似乎仅限于阿什肯纳兹犹太人群体，其携带者频率为三十分之一。对代表所有常染色体的191个标记位点进行检测，以确定其与23个家族中的FD基因缺陷是否存在连锁关系。成对分析和多点分析相结合，将FD基因排除在至少60%的常染色体基因组之外。EXCLUDE程序预测，2号、4号、5q、9号或10号染色体区域是未来分析最有希望的位置。
