[Rapid screening of a hotspot variant c.609G>A in MMACHC gene by using PCR-high-resolution melting curve analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 759-763, 2020 Jul 10.
Article
en Zh
| MEDLINE
| ID: mdl-32619259
ABSTRACT
OBJECTIVE:
To carry out genetic testing for two families affected with cobalamin C (cblC) and establish a rapid method for the detection of a hotspot pathogenic variant c.609G>A of the MMACHC gene by using a PCR-high-resolution melting curve (PCR-HRM) method.METHODS:
Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Potential variants of the MMACHC gene was analyzed by Sanger sequencing. The c.609G>A variant of the MMACHC gene was screened among 100 healthy children with the PCR-HRM method.RESULTS:
Sanger sequencing revealed that proband 1 carried compound heterozygous variants c.394C>T and c.609G>A of the MMACHC gene, while proband 2 carried compound heterozygous variants c.482G>A and c.609G>A of the same gene. PCR-HRM analysis of the two probands and the 100 healthy children were consistent with the Sanger sequencing.CONCLUSION:
c.609G>A is a hotspot pathogenic variant of the MMACHC gene. The diagnosis of cblC may be rapidly attained through detection by PCR-HRM.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Vitamina B 12
/
Reacción en Cadena de la Polimerasa
/
Homocistinuria
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China