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GENETICAL AND MOLECULAR ANALYSIS OF FAMILIAL HYPERCHOLESTEREMIA DISEASE | ||
| Iraqi Journal of Biotechnology | ||
| Article 1, Volume 7, Issue 2, 2008, Pages 133-146 | ||
| Abstract | ||
| The mendelian autosomal dominant diseases are a group of diseases which raised by a dominant mutated allele of a single gene. Most of these dominant genes are heterozygous where the homozygous are uncommon . All of these genes are located on autosomal chromosomes and autosomal dominant disorders affect both sexes and can often be traced through many generations of a family ( Vertical Transmitting) . The heterozygous affected parents will transmit the gene for the disease to half their offspring, whether male or female. Estimation of risk is therefore apparently simple by using family pedigrees but in practice several factors such as expressivity and penetrance may cause difficulties in families counseling Familial Hypercholesteremia – FH- is represented as an example for autosomal dominant disorders .This disease raised from deleted or damaged low density lipoproteins -LDL-receptor resulted in defective clearance and hence elevated levels of LDL including cholesterol which can cause different types of coronary and heart diseases and increase severity with early death. The FH disease is due to a different types of genetic defects ranging from a single mutation to deletion in the LDL- receptor gene which is located on the short arm of chromosome 19 (p13.1-13.3). | ||
| Keywords | ||
| Autosomal; LDL | ||
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