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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1997-2-13
|
| pubmed:abstractText |
We have screened exon 12 of the low density lipoprotein (LDL) receptor gene from 46 familial hypercholesterolemia (FH) heterozygotes and 64 normolipidemic controls for two polymorphisms, HincII, which is caused by a T to C substitution at base 1773, and a C to T transition at base 1725, by using single strand conformation polymorphism (SSCP) analysis. Our results indicate that polymorphism at base 1725, previously reported as very rare from a Japanese sample, is quite frequent in the Spanish population and that it is closely linked to the presence of the HincII site (HincII+). Thus, both polymorphisms constitute a system of three alleles, typed HincII- C1725, HincII+ C1725, and HincII+ T1725, whose frequencies in the FH sample were 0.489, 0.347, and 0.164, respectively. No significant differences were found in the allele frequencies between the FH and control samples. This three-allelic polymorphic system provides a higher information content (PIC value) than the HincII RFLP alone (0.537 versus 0.373, respectively); therefore, it is an extremely useful marker for linkage analysis of FH in Caucasian populations.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
50
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
50-3
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:8891387-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:8891387-European Continental Ancestry Group,
pubmed-meshheading:8891387-Exons,
pubmed-meshheading:8891387-Female,
pubmed-meshheading:8891387-Genetic Linkage,
pubmed-meshheading:8891387-Genetic Markers,
pubmed-meshheading:8891387-Heterozygote,
pubmed-meshheading:8891387-Homozygote,
pubmed-meshheading:8891387-Humans,
pubmed-meshheading:8891387-Hyperlipoproteinemia Type II,
pubmed-meshheading:8891387-Male,
pubmed-meshheading:8891387-Pedigree,
pubmed-meshheading:8891387-Polymerase Chain Reaction,
pubmed-meshheading:8891387-Polymorphism, Genetic,
pubmed-meshheading:8891387-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:8891387-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8891387-Predictive Value of Tests,
pubmed-meshheading:8891387-Receptors, LDL,
pubmed-meshheading:8891387-Spain
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
A three-allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population.
|
| pubmed:affiliation |
Instituto de Investigaciones Citológicas, Fundación Valenciana de Investigaciones Biomédicas, Spain.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|