CLINICAL GENETIC STUDIES ON FAMILIAL COMBINED HYPERLIPIDEMIA IN CHILDREN.

1995 Fiscal Year Final Research Report Summary

• Project/Area Number: 05670654
• Research Category: Grant-in-Aid for General Scientific Research (C)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: University of Tsukuba
• Principal Investigator: SHIMAKURA Yae Univ.of TUKUBA,Dept.of Pediatrics Assistan Professer, 臨床医学系, 講師 (10196470)
• Co-Investigator(Kenkyū-buntansha): YANAGI Hisako Univ.of TUKUBA,Dept.of Pediatrics Assistan Professer, 社会医学系, 講師 (10241811)
• Project Period (FY): 1993 – 1995
• Keywords: screening / children / familial combined hyperlipidemi / 遺伝的異質性 / 学校検診 / 家系分析 / RFLP

Research Abstract

Two hundred and sixty seven children were diagnosed to be hypercholesterolemia (HC)from school survey of 3,113 children. Family studies of these hypercholesterolemic children indicated that thirty families were hereditary hypercholesterolemia. Based on clinical features, thirteen families were diagnosed as familial combined hyperlipidemia (FCHL). The average age of the probands with FCHL was at 10.5 years old. The relationship between hyperlipide mia and RFLP haplotypes in the apo AI-CIII-AIV gene cluster was examined in nine FCHL families : hyperlipidemia and the RFLP haplotypes were co-segregated in three families, but were not co-segregated in two families. The relationship was not informative or was not determined in four familes. The data suggest that the onset of hypercholesterolemia in FCHL was about age ten or earlier in considerable parts of children and genetical causes of FCHL were heterogeneous.