ORNITHINE AMINOTRANSFERASE (OAT) - RECOMBINATION BETWEEN AN X-LINKED OAT SEQUENCE (7.5 KB) AND THE NORRIE DISEASE LOCUS

被引：4

作者：

NGO, JT

BATEMAN, JB

SPENCE, MA

CORTESSIS, V

SPARKES, RS

KIVLIN, JD

MOHANDAS, T

INANA, G

机构：

[1] UNIV CALIF LOS ANGELES,CTR HLTH SCI,SCH MED,JULES STEIN EYE INST,CTR VIS GENET,LOS ANGELES,CA 90024

[2] UNIV CALIF LOS ANGELES,SCH MED,DEPT OPHTHALMOL,LOS ANGELES,CA 90024

[3] UNIV CALIF LOS ANGELES,SCH MED,DEPT PSYCHIAT,LOS ANGELES,CA 90024

[4] UNIV CALIF LOS ANGELES,SCH MED,BIOMATH,LOS ANGELES,CA 90024

[5] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DIV MED GENET,TORRANCE,CA 90509

[6] NEI,BETHESDA,MD 20892

[7] UNIV CALIF LOS ANGELES,SCH MED,DEPT MED,LOS ANGELES,CA 90024

[8] UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90024

[9] UNIV UTAH,HLTH SCI CTR,DEPT OPHTHALMOL,SALT LAKE CITY,UT 84132

来源：

GENOMICS | 1990年 / 6卷 / 01期

关键词：

D O I：

10.1016/0888-7543(90)90456-5

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：

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp 11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT. © 1990.

引用

页码：123 / 128

页数：6

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