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Linkage Studies of Cholestasis Familiaris Groenlandica/Byler-Like Disease with Polymorphic Protein and Blood Group Markers

 

作者: Hans Eiberg,   Inge-Merete Nielsen,  

 

期刊: Human Heredity  (Karger Available online 1993)
卷期: Volume 43, issue 4  

页码: 250-256

 

ISSN:0001-5652

 

年代: 1993

 

DOI:10.1159/000154139

 

出版商: S. Karger AG

 

关键词: Cholestasis familiaris groenlandica;Gene frequencies;Polymorphic markers;Exclusion mapping

 

数据来源: Karger

 

摘要:

In Greenland, and especially East Greenland (Tasiilaq), a common recessive disease, cholestasis familiaris groenlandica (CFG)/Byler-like disease, occurs in Eskimo children [1]. In a period from 1964–1991, at least 22 children out of about 2,121 newborns were born with this disease (gene frequency q = 0.102). Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease. Polymorphisms and exclusion data were found for the following markers: A1BG, ABO, ACP1, AHSG, C1R, C6, FY, GC, GLO1, GPT, HP, ITIH1, JK, GYPA, GYPB, ORM, P1, PGM1, PI, PON, RH and TCN2. Small positive lod scores (Z < 1.5) were found to the following markers: ITIH1, JK and TCN2. The following markers were nonpolymorphic in this material: ADA, AK1, ALAD, APOA4, APOH, BF, C3, BCHE, CHE2, CO, ESD, FUCA2, F13A1, F13B, KEL, LE, FUT1, LU, PEPD, PGD, PGP, PLG, FUT2, SOD1 and T

 

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