In:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, SAGE Publications, Vol. 42, No. 4 ( 2005-07-01), p. 264-268
Kurzfassung:
Background: We found an unexplained, persistent discrepancy between the outcomes of two apolipoprotein-E (apo-E) genotyping methods for a patient with features of familial dysbetalipoproteinaemia (FD). Polymerase chain reaction - restriction fragment length polymorphism resulted in the apo-ε 2 /ε 2 genotype, whereas minisequencing indicated apo-ε 2 /ε 3 . The discrepancy was predicted to derive from a novel mutation. Methods: Sequencing of patient DNA, set-up of a mutation analysis method and establishment of mutation occurrence in 19 family members of the proband and investigation of its association with serum lipid indices. Results: Sequencing demonstrated a G-insertion in codon 95 or 96 ( 95 AAG- 96- GAG- 95 AAG- 96 GGA-G) of the apo-ε 3 allele. The mutation, designated apo-ε 3Groningen , was predicted to cause a frameshift, a premature stop codon at codon 146 (AAGεTAA) and the expression of a truncated apo-E protein, if any. Four family members with the apo-ε 3Groningen were identified. Two family members with apo-ε 3 /ε 3Groningen had serum lipid indices within reference ranges but low-serum apo-E. Three subjects with apo-ε 2 /ε 3Groningen , proband included, had serum cholesterol, triglycerides and calculated low-density lipoprotein-cholesterol levels above the reference ranges. Their electrophoresis pattern showed the classical broad-beta band, indicative of FD. Conclusion: Apo-ε 3Groningen heterozygosity is unlikely to precipitate FD, unless provoked by compound apo-ε 2 heterozygosity or other FD precipitating factors.
Materialart:
Online-Ressource
ISSN:
0004-5632
,
1758-1001
DOI:
10.1258/0004563054255498
Sprache:
Englisch
Verlag:
SAGE Publications
Publikationsdatum:
2005
ZDB Id:
2041298-8
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