| Autor: |
Ledley, Fred D, Levy, Harvey L, Lidsky, Alan S, Woo, Savio L C |
| Zdroj: |
Pediatric Research; April 1985, Vol. 19 Issue: 4 p315A-315A, 1p |
| Abstrakt: |
Mutations in the PAH gene can cause either classical phenylketonuria (PKU) or MHP. The genetic relationship between these different forms of PAH deficiency is complex. We report biochemical characterization and restriction fragment length polymorphism (RFLP) analysis of the PAH gene using cloned PAH in two families in which some siblings have PKU and others have MHP. In both families the mother has MHP and the father is biochemically normal. The first family has one child with PKU, one child with MHP, and two normal children. The second family has one child with PKU, three children with MHP, and one normal child. Haplotype analysis of the PAH gene using RFLPs demonstrates that in each family one allele from the father segregates with all the affected children (both PKU and MHP) while one of the maternal alleles segregates with PKU and the other with MHP. This analysis identifies several mutant PAH alleles which can cause either PKU or MHP. These findings demonstrate that, at least in these families, there is extensive overlap between those mutations causing PKU and those causing MHP. The two distinctly different clinical phenotypes reflect the effects of pairs of mutant alleles, presumably representing a variety of different mutations, which together have distinctive biochemical and pathophysiological consequences. |
| Databáze: |
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