Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 147-151, 2011.
Article
Dans Chinois
| WPRIM
| ID: wpr-326975
ABSTRACT
<p><b>OBJECTIVE</b>Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease resulting from the deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). The present study was conducted to identify IDUA gene mutations in attenuated (MPS I H/S and MPS I S) patients with MPS I in northern China.</p><p><b>METHODS</b>Fourteen exons with adjacent intronic sequences of the IDUA gene in 11 MPS I patients were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced directly and origin analysis was conducted.</p><p><b>RESULTS</b>Seven mutations were detected in the 11 MPS I patients, i.e., c.236 C to T (p. A79V), c.266 G to A (p.R89Q), c.265 C to T (p.R89W), c.532G to A (p.E178K), c.589G to A (p.G197S), c.1037T to G (p.L346R), and c.1877 G to A (p.W626X). All of them were known mutations. Six patients were homozygotes and 1 was heterozygote with nonsense mutation. In addition, 9 reported single nucleotide polymorphism (SNP) were detected, i.e., p.A8, p.A20, p.H33Q, p.R105Q, p.A314, p. A361T, p.T388, p.T410 and p.V454I.</p><p><b>CONCLUSION</b>The mutation spectrum of the IDUA gene in attenuated MPS I Chinese patients may be different from that in patients from other countries.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Chine
/
Réaction de polymérisation en chaîne
/
Mucopolysaccharidose de type I
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Analyse de séquence d'ADN
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Polymorphisme de nucléotide simple
/
Diagnostic
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2011
Type:
Article
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