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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Receptores de LDL
/
Análise Mutacional de DNA
/
Testes Genéticos
/
Genética
/
Hiperlipoproteinemia Tipo II
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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