Bech-Hansen N T, Moore B J, Pearce W G
Department of Paediatrics, Alberta Children's Hospital, Calgary, Canada.
Genomics. 1992 Feb;12(2):409-11. doi: 10.1016/0888-7543(92)90394-8.
A recombinant chromosome in a male affected with X-linked congenital stationary night blindness (CSNB1) provides new information on the location of the CSNB1 locus. A four-generation family with five males affected with X-linked CSNB was analyzed with five polymorphic markers for four X-chromosome loci spanning the region OTC (Xp21.1) to DXS255 (Xp11.22). Four of the males inherited the same X chromosome; one male inherited a chromosome that from OTC to DXS7, inclusive, was derived from the normal X chromosome of his unaffected grandfather and that from a location between DXS7 and DXS426 proximally was derived from the chromosome carrying the CSNB1 locus. This recombinant maps the CSNB1 locus in this family to a region on the short arm of the X chromosome proximal to the DXS7 locus.
一名患有X连锁先天性静止性夜盲症(CSNB1)的男性中的一条重组染色体为CSNB1基因座的定位提供了新信息。对一个有五名男性患X连锁CSNB的四代家系,使用五个多态性标记,针对跨越从OTC(Xp21.1)到DXS255(Xp11.22)区域的四个X染色体基因座进行了分析。其中四名男性继承了相同的X染色体;一名男性继承的染色体,从OTC到DXS7(含),源自其未患病祖父的正常X染色体,而从DXS7和DXS426近端之间的位置起,则源自携带CSNB1基因座的染色体。这种重组将该家系中的CSNB1基因座定位到X染色体短臂上靠近DXS7基因座的一个区域。