TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia

Yamakawa, Katsutoshi; Okafuji, Takaaki; Iwamura, Yukio; Yuzawa, Kenji; Satoh, Juichi; Hattori, Naoko; Yamanouchi, Yasuko; Yanagi, Hisako; Kawai, Koichi; Tsuchiya, Shigeru; Russell, David W.; Hamaguchi, Hideo

doi:10.1007/bf00451446

Cited by 14 publications

(3 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To detect the AvaII, HincII and TaqI RFLPs of the L D L R gene PCR protocols were used as described by others [7,11,19]. To detect the ApalI 5' prime, NcoI, PvuII, and StuI RFLPs Southern blot analysis was used as described previously [14].…”

Section: Haplotype Analysismentioning

confidence: 99%

Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia

et al. 1993

View full text Add to dashboard Cite

Familial hypercholesterolemia is caused by various mutations in the gene encoding the low-density lipoprotein receptor. To date more than 100 mutations have been identified, including insertions and deletions as well as single base changes. In the German population haplotype analysis using four restriction fragment length polymorphisms has recently suggested that there exist at least six different genetic defects. Screening 100 FH patients of German origin for the serine 156 to leucine mutation, originally described in a Puerto Rican family living in the United States, resulted in the identification of the mutation in one family. However, by haplotype analysis the mutation was found on a different haplotype from that reported originally. Based on comparison of the haplotypes and their frequencies we suggest that this mutation has occurred independently at least twice.

show abstract

Section: Haplotype Analysismentioning

confidence: 99%

Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia

et al. 1993

View full text Add to dashboard Cite

show abstract

“…The abnormal TaqI 1.5-kb band associated with FH has been reported previously (Yamakawa et al 1988). …”

Section: Methodsmentioning

confidence: 99%

“…2). Genomic D N A extraction and Southern blot hybridization were performed as described previously, to screen any gross rearrangements and to analyze restriction fragment length polymorphisms (RFLPs) of the L D L receptor gene (Yamakawa et al 1988. The R F L P haplotypes of the individuals were determined by family studies.…”

Section: Methodsmentioning

confidence: 99%

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas

et al. 1991

Self Cite

View full text Add to dashboard Cite

To assess the relationship between relatively severe hereditary hypercholesterolemia with Achilles tendon xanthomas and the defect of the low density lipoprotein (LDL) receptor gene, family studies were carried out in 17 hypercholesterolemic families. In 16 out of the 17 families, hypercholesterolemia co-segregated with four different gross rearrangements, six different restriction fragment length polymorphism (RFLP) haplotypes, or an abnormal TaqI band of the LDL receptor gene. These findings are compatible with the interpretation that hypercholesterolemia is caused by defective LDL receptor genes, and that the origin of the mutant LDL receptor genes in Japanese generally differs among different pedigrees. In the remaining family, the proband and his sibling, both having relatively severe hypercholesterolemia and Achilles tendon xanthomas, shared an RFLP haplotype, although the proband's other sibling with moderate hypercholesterolemia but without Achilles tendon xanthomas did not. The mutant gene for familial defective apolipoprotein B-100 was not detected in the 17 probands. These data suggest that most, if not all, of the relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas is caused by a defect of the LDL receptor gene.

show abstract

Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia

Chakir

Ju²,

Shevtsov

et al. 1998

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia

Cited by 14 publications

References 22 publications

Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia

Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas

Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia

Contact Info

Product

Resources

About