| Autor: |
K E, Heath, L A, Luong, J V, Leonard, A, Chester, C C, Shoulders, J, Scott, H R, Middleton-Price, S E, Humphries, P J, Talmud |
| Rok vydání: |
1998 |
| Předmět: |
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| Zdroj: |
Prenatal diagnosis. 17(12) |
| ISSN: |
0197-3851 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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