Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.
Two polymorphisms exist in the alpha-L-iduronidase (IDUA) gene, the gene that is defective in mucopolysaccharidosis type I (MPS I), viz. a KpnI polymorphism and a variable number of tandem repeats (VNTR) polymorphism with three common alleles. The analysis of allele and haplotype frequencies for these two polymorphisms in the normal population and in MPS I patients revealed the presence of linkage disequilibrium. The frequency of the 2,2 (VNTR, KpnI) allele in MPS I patients was 57% compared with only 37% in the normal population. The implications for the presence of a major MPS I allele and the ability to predict patient phenotype are discussed.
Scott
H S
HS
Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, Australia.
Nelson
P V
PV
Cooper
A
A
Wraith
J E
JE
Hopwood
J J
JJ
Morris
C P
CP
D000483:Alleles; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D015810:Linkage Disequilibrium; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D007068:Iduronidase