{"title":"诺里病家系限制性内切酶分析。","authors":"S R Chung, S Katayama, R Lebo, M S Golbus","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Carrier detection and prenatal diagnosis of Norrie disease (ND) were performed using the polymorphic L1.28, OTC, and 58-1 probes. L1.28 was polymorphic in 3 of the 5 ND families tested and informative in 2 families (40%). Probe 58-1 and OTC were informative in one of 3 families (33%) and in both of the 2 families (100%) tested, respectively. The major allele frequency was 73% in L1.28 (DXS7), 89% in 58-1 (DXS14), and 50% in OTC in our patient population. One of 5 families studies showed a recombination between probes (L1.28 and OTC) and the ND gene locus placing the ND locus proximal to L1.28 and OTC.</p>","PeriodicalId":8557,"journal":{"name":"Asia-Oceania journal of obstetrics and gynaecology","volume":"18 3","pages":"255-61"},"PeriodicalIF":0.0000,"publicationDate":"1992-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Restriction enzyme analysis of Norrie disease pedigrees.\",\"authors\":\"S R Chung, S Katayama, R Lebo, M S Golbus\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Carrier detection and prenatal diagnosis of Norrie disease (ND) were performed using the polymorphic L1.28, OTC, and 58-1 probes. L1.28 was polymorphic in 3 of the 5 ND families tested and informative in 2 families (40%). Probe 58-1 and OTC were informative in one of 3 families (33%) and in both of the 2 families (100%) tested, respectively. The major allele frequency was 73% in L1.28 (DXS7), 89% in 58-1 (DXS14), and 50% in OTC in our patient population. One of 5 families studies showed a recombination between probes (L1.28 and OTC) and the ND gene locus placing the ND locus proximal to L1.28 and OTC.</p>\",\"PeriodicalId\":8557,\"journal\":{\"name\":\"Asia-Oceania journal of obstetrics and gynaecology\",\"volume\":\"18 3\",\"pages\":\"255-61\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1992-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asia-Oceania journal of obstetrics and gynaecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asia-Oceania journal of obstetrics and gynaecology","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Restriction enzyme analysis of Norrie disease pedigrees.
Carrier detection and prenatal diagnosis of Norrie disease (ND) were performed using the polymorphic L1.28, OTC, and 58-1 probes. L1.28 was polymorphic in 3 of the 5 ND families tested and informative in 2 families (40%). Probe 58-1 and OTC were informative in one of 3 families (33%) and in both of the 2 families (100%) tested, respectively. The major allele frequency was 73% in L1.28 (DXS7), 89% in 58-1 (DXS14), and 50% in OTC in our patient population. One of 5 families studies showed a recombination between probes (L1.28 and OTC) and the ND gene locus placing the ND locus proximal to L1.28 and OTC.
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