Zhu D, Alcorn D M, Antonarakis S E, Levin L S, Huang P C, Mitchell T N, Warren A C, Maumenee I H
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Baltimore, MD 21205.
Hum Genet. 1990 Nov;86(1):54-8. doi: 10.1007/BF00205172.
There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
《人类孟德尔遗传》（麦库西克，1988年）记载了三种X连锁型白内障：先天性全白内障，杂合子有后缝混浊；先天性白内障，伴有小角膜或轻度小眼症；以及白内障-牙齿综合征或南斯-霍兰（NH）综合征。为了确定一个与NH综合征致病基因紧密连锁的DNA标记，利用31个DNA标记对一个三代家系中的36名成员进行了连锁分析，该家系包括7名患病男性和9名携带者女性。用位于Xp22.2 - p22.3的DXS85位点的探针782在θ = 0.16时获得了1.662的连锁值。在短臂上的6个位点发现了负连锁值，其中1个在DXS85远端，5个在近端，跨越长臂的6个探针的连锁值为高度负值。这些结果使得NH综合征的致病基因定位于X染色体短臂远端成为可能。
