The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).
Prenat Diagn
; 17(12): 1181-6, 1997 Dec.
Article
en En
| MEDLINE
| ID: mdl-9467817
ABSTRACT
Abetalipoproteinaemia is a rare autosomal-recessive disorder caused by a defect in the large subunit of the microsomal triglyceride transfer protein (MTP) which is required for the assembly and secretion of apolipoprotein B-containing lipoproteins. We report here the use of a polymorphic CA dinucleotide repeat in intron 10, MTPIVS10, of the large subunit of the human MTP protein in the analysis of a pregnancy in a consanguineous family, in which abetalipoproteinaemia was suspected, although prenatal diagnosis was subsequently refused. The mutation in the family has been identified as a novel four-nucleotide insertion/duplication of exon 17 between nucleotides 2349 and 2350 of the cDNA sequence of the MTP gene. However, the marker, MTPIVS10, can be used as an alternative to the time-consuming mutation detection techniques.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
Polimorfismo Genético
/
Abetalipoproteinemia
/
Proteínas Portadoras
/
Repeticiones de Dinucleótido
/
Proteínas de la Membrana
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Prenat Diagn
Año:
1997
Tipo del documento:
Article
País de afiliación:
Reino Unido