作者: Hans Eiberg , Inge-Merete Nielsen
DOI: 10.1159/000154139
关键词: GYPB 、 Polymorphism (computer science) 、 ABO blood group system 、 GYPA 、 Genetic marker 、 Genetic linkage 、 Allele frequency 、 Gene mapping 、 Biology 、 Genetics
摘要: In Greenland, and especially East Greenland (Tasiilaq), a common recessive disease, cholestasis familiaris groenlandica (CFG)/Byler-like occurs in Eskimo children [1]. period from 1964-1991, at least 22 out of about 2,121 newborns were born with this disease (gene frequency q = 0.102). Samples 126 persons, large pedigree including 7 affected two families West total 3 children, have been collected for studying 45 polymorphic markers mapping the CFG disease. Polymorphisms exclusion data found following markers: A1BG, ABO, ACP1, AHSG, C1R, C6, FY, GC, GLO1, GPT, HP, ITIH1, JK, GYPA, GYPB, ORM, P1, PGM1, PI, PON, RH TCN2. Small positive lod scores (Z < 1.5) to JK The nonpolymorphic 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 TF.