GENETIC AND PHYSICAL MAPPING OF XQ24-Q26 MARKERS FLANKING THE LOWE OCULOCEREBRORENAL SYNDROME

被引:28
作者
REILLY, DS
LEWIS, RA
NUSSBAUM, RL
机构
[1] UNIV PENN,SCH MED,DEPT HUMAN GENET,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,HOWARD HUGHES MED INST,PHILADELPHIA,PA 19104
[3] BAYLOR UNIV,DEPT OPHTHALMOL,HOUSTON,TX 77030
[4] CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,PHILADELPHIA,PA 19104
[5] BAYLOR UNIV,DEPT PEDIAT,HOUSTON,TX 77030
[6] BAYLOR UNIV,INST MOLEC GENET,HOUSTON,TX 77030
[7] BAYLOR UNIV,DEPT MED,HOUSTON,TX 77030
关键词
D O I
10.1016/0888-7543(90)90226-K
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract, mental retardation, and renal tubular dysfunction. We are using the approaches of linkage analysis, mapping with somatic cell hybrids, and long-range restriction mapping to determine the order of Xq24-q26 markers with respect to each other and to the OCRL locus. DXS42 and DXS100 are proximal to the translocation breakpoint in a female patient with OCRL and a de novo translocation t(X;3)(q25;q27). DXS10, DXS86, HPRT, and DXS177 are distal to the breakpoint. These flanking markers show tight linkage to the disease locus in 11 families segregating for OCRL. Results from field inversion gel analysis show that DXS86 and DXS10 share a 460-kb BssHII fragment. Multipoint analysis to determine the position of HPRT with respect to (DXS10,DXS86) suggests that HPRT is proximal to (DXS10,DXS86). We propose the following order for markers in Xq24-q26: Xcen-(DXS42,DXS37,DXS100)-OCRL-DXS53-HPRT-[(DXS10,DXS86),DXS177]-Xqter. The identification of additional tightly linked flanking markers extends the number of markers available for use in genetic counseling and begins to define the physical map of the region containing the gene for OCRL. © 1990.
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页码:62 / 70
页数:9
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