The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)
✍ Scribed by Karen E. Heath; Le-ahn Luong; James V. Leonard; Ann Chester; Carol C. Shoulders; James Scott; Helen R. Middleton-Price; Steve E. Humphries; Philippa J. Talmud
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 76 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
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.