Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

The frequency and inheritance of three restriction fragment length polymorphisms (RFLPs) of the low density lipoprotein (LDL) receptor gene were investigated in 27 South African families with familial hypercholesterolaemia. Four haplotypes, defined by the enzymes PvuII, StuI, and NcoI, were found to segregate in this population. The frequency of the rare allele detected by NcoI was found to be ...

The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa.

Haplotype association studies were performed in 10 unrelated South African families and 1 German immigrant family with familial adenomatous polyposis (FAP). Three DNA probes, recognising five restriction fragment length polymorphisms (RFLPs) around the gene locus for FAP on chromosome 5q, were used. The RFLP analysis was informative or partially informative in all the families studied. Five hap...

Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.

PURPOSE OF REVIEW Many international recommendations for the management of familial hypercholesterolaemia propose the use of cascade testing using the family mutation to unambiguously identify affected relatives. In the current economic climate DNA information is often regarded as too expensive. Here, we review the literature and suggest strategies to improve cost-effectiveness of cascade testi...

Saving lives, saving families The health, social and economic advantages of detecting and treating familial hypercholesterolaemia (FH)

Efficiency of BclI Restriction Fragment Length Polymorphism for Detection of Hemophilia A Carriers in Sistan and Baluchestan Province, Southeast of Iran

Background: Indirect genetic diagnosis using polymorphic DNA markers can detect carriers of hemophilia A. This technique is preferable in developing countries because of its simplicity and cost effectiveness compared to direct mutation analysis. In the present study, we examined usefulness of intragenic marker BclI restriction fragment length polymorphism (RFLP) at intron 18, for carrier detect...