Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.
作者： Dorothy Silver Reilly , Richard Alan Lewis , Robert L. Nussbaum
DOI: 10.1016/0888-7543(90)90226-K
关键词:
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, long-range restriction to determine order Xq24-q26 markers respect each other OCRL locus. DXS42 DXS100 proximal translocation breakpoint in a female patient de novo t(X;3)(q25;q27). DXS10, DXS86, HPRT, DXS177 distal breakpoint. These flanking show tight disease locus 11 families segregating for OCRL. Results from field inversion gel analysis that DXS86 DXS10 share 460-kb BssHII fragment. Multipoint position HPRT (DXS10,DXS86) suggests (DXS10,DXS86). propose following Xq24-q26: Xcen-(DXS42,DXS37,DXS100)-OCRL-DXS53 -HPRT-[(DXS10,DXS86),DXS177]-Xqter. identification additional tightly linked extends number available use genetic counseling begins define physical map region containing gene
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