Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 783-786, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-775838
ABSTRACT
OBJECTIVE@#To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH).@*METHODS@#All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles.@*RESULTS@#Direct sequencing of PCR products revealed 8 LDLR variants in 7 patients, which included c.259T>G, c.513delC, c.530C>T, c.682G>T, c.763C>T, c.1187-10G>A, c.1948delG, and c.1730G>A, among which c.1948delG was novel. Four patients have carried heterozygous mutations, two carried homozygous mutations, and one carried compound heterozygous mutations. The patients with biallelic mutations presented with a more severe phenotype compared those carrying heterozygous mutations.@*CONCLUSION@#LDLR mutations were identified in 7 out of 9 patients with FH. Among the 8 identified LDLR mutations, c.1948delG was firstly reported. Above findings have expanded the mutation spectrum of LDLR gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Récepteurs aux lipoprotéines LDL
/
Analyse de mutations d'ADN
/
Dépistage génétique
/
Génétique
/
Hyperlipoprotéinémie de type II
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude pronostique
/
Étude de dépistage
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article
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