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Absence of close linkage between Hereditary Spherocytosis (SPH) and 24 genetic marker systems including HLA and GM
Author(s) -
JONGH B. M. de,
BLACKLOCK H. A.,
REEKERS P.,
VOLKERS W. S.,
KHAN P. MEERA,
BERNINI L. F.,
NIJENHUIS L. E.,
LOGHEM E.,
SCHREUDER G. M. Th.,
ROOD J. J. van
Publication year - 1983
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1983.tb00970.x
Subject(s) - hereditary spherocytosis , penetrance , genetics , genetic linkage , linkage (software) , biology , human leukocyte antigen , lod score , genetic marker , family studies , inheritance (genetic algorithm) , gene mapping , gene , antigen , phenotype , chromosome
Summary A total of 250 individuals belonging to 19 different families, identified through established propositi were simultaneously screened for hereditary spherocytosis (SPH), using stringent criteria, and 27 well‐known polymorphic genetic marker systems. The segregation analysis indicated that the pattern of inheritance of SPH in these families, being autosomal and dominant, had a 100 % penetrance. A statistical analysis, using the LIPED computer program of Ott (1974), revealed the absence of close linkage between SPH and AB0, ACP1, ADA, AK1, C3, D1A2, ESD, FY, CC, GL01, GM, GPT1, HLA, HPA, JK, K, KM, MNS, P, PGD, PGM1, PGP, PI , and RH. Since an earlier study by other investigators had convincingly suggested a linkage between SPH and GM , we subjected the data to further analysis and found no significant heterogeneity in our recombination values of linkage between SPH and GM , or any of the other informative loci.