PMID- 12818523
OWN - NLM
STAT- MEDLINE
DCOM- 20040220
LR  - 20191107
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 46
IP  - 1
DP  - 2003 Jan-Mar
TI  - Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites 
      frequencies in patients and healthy subjects of Mexican population.
PG  - 7-10
AB  - BACKGROUND: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive disorder, 
      which is caused by mutations in the IDUA gene. It induces the deficiency of 
      glycosidase alpha-L-duronidase. The enzyme that is required for the degradation 
      of heparan and dermatan sulfate. This disorder expresses a wide range of clinical 
      symptoms (severe mental retardation, skeletal deformations, hepatosplenomegaly, 
      corneal clouding and mild visceral organ involvement). In the present paper, we 
      report the frequencies of haplotypes of the Eco47III-NspI sites, in the IDUA 
      gene, in Mexican healthy and in MPS-I individuals. METHODS: Eco47III and NspI 
      intragenic polymorphisms in IDUA gene were studied in 262 (524 chromosomes) 
      Mexican healthy subjects and in 53 (106 chromosomes) MPS-I patients. RESULTS: The 
      genotypes for IDUA Eco47III and NspI sites in Mexicans were in agreement with 
      Hardy-Weinberg expectations. Allele frequency distributions for individual sites 
      differed (P < 0.05) in both groups. Haplotype Eco47III-NspI frequencies of 
      Mexican MPS-I patients also differed from those of the normal Mexican population. 
      The data provide evidence of linkage disequilibrium, since the MPS-I group 
      constitutes a subset of the Mexican control population. The disequilibrium in 
      Mexican MPS-I patients was defined by an increase in the haplotype A1B2, and 
      deficiency in A2B1, with respect to normal population (P < 0.05). CONCLUSIONS: 
      Our results support that these polymorphisms can be associated to mutations in 
      IDUA gene, which leads to MPS-I in Mexican patients. On the other hand, these 
      polymorphisms can be used to identify heterozygosity when they are informative.
FAU - Gallegos-Arreola, M P
AU  - Gallegos-Arreola MP
AD  - Divisione de Medicina Molecular, Centro de Investigacion Biomedica de Occidente, 
      Guadalajara, Jalisco, Mexico. marthaga@foreigner.class.udg.mx 
      <marthaga@foreigner.class.udg.mx>
FAU - Arnaud-Lopez, L
AU  - Arnaud-Lopez L
FAU - Figuera, L E
AU  - Figuera LE
FAU - Beltran Jaramillo, T S
AU  - Beltran Jaramillo TS
FAU - Rangel-Villalobos, H
AU  - Rangel-Villalobos H
FAU - Thomatsu, Sunji
AU  - Thomatsu S
FAU - Zuniga-Gonzalez, G M
AU  - Zuniga-Gonzalez GM
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
RN  - EC 3.1.21.4 (AGCGCT-specific type II deoxyribonucleases)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
RN  - EC 3.2.1.76 (Iduronidase)
SB  - IM
MH  - Adult
MH  - Deoxyribonucleases, Type II Site-Specific
MH  - Gene Frequency
MH  - Haplotypes
MH  - Humans
MH  - Iduronidase/*genetics
MH  - Mexico
MH  - Mucopolysaccharidosis I/*genetics
MH  - Polymorphism, Restriction Fragment Length
EDAT- 2003/06/24 05:00
MHDA- 2004/02/21 05:00
CRDT- 2003/06/24 05:00
PHST- 2003/06/24 05:00 [pubmed]
PHST- 2004/02/21 05:00 [medline]
PHST- 2003/06/24 05:00 [entrez]
AID - S0003399503000108 [pii]
AID - 10.1016/s0003-3995(03)00010-8 [doi]
PST - ppublish
SO  - Ann Genet. 2003 Jan-Mar;46(1):7-10. doi: 10.1016/s0003-3995(03)00010-8.