Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.

Autor: Rivero MB; Divisão de Genética, Instituto Nacional de Câncer, Rio de Janeiro, Brazil., Olicio R, Lima CR, Bonvicino CR, Moreira MA, Llerena JC, Seuánez HN
Jazyk: angličtina
Zdroj: American journal of medical genetics [Am J Med Genet] 2001 Sep 15; Vol. 103 (1), pp. 48-55.
DOI: 10.1002/ajmg.1514
Abstrakt: Heterozygous carriers of HPRT1 mutations responsible for Lesch-Nyhan syndrome can be detected by analysis of somatic cell hybrids derived from peripheral blood lymphocytes and Hprt1-negative cells of rodent origin followed by selection in culture medium containing hypoxanthine, aminopterine, and thymidine (HAT). The parental origin of the X chromosome containing the normal HPRT1 allele in HPRT1(+) hybrid cell lines can be determined by molecular haplotyping attributable to highly polymorphic X-linked markers. We used this procedure to study a presumed carrier whose paternal active X chromosome always segregated in the cell hybrids derived from her. Conversely, her maternal X chromosome was systematically absent in most cell hybrids, or when present, it was inactive and coexisted with an active, paternal X chromosome. These results clearly demonstrated that the proband was a heterozygous carrier of a mutation responsible for HPRT1 deficiency.
(Copyright 2001 Wiley-Liss, Inc.)
Databáze: MEDLINE
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