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     HDL familial hypercholesterolemia

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POLYMORPHISMS OF THE LDL RECEPTOR GENE CODING REGION IN ST.-PETERSBURG POPULATION

Polymorphisms are defined as common variants of the nucleotide sequence with the frequency of the rare allele exceeding 1%. In addition, polymorphisms in contrast to mutations do not cause directly development of the disease. Many polymorphisms result in the appearance or loss of restriction endonuclease sites and thus can be visualized as restriction fragment length polymorphisms (RFLPs).

 The linkage studies, i.e. the studies of inheritance of the polymorphism allele and the disease phenotype, allow perform the DNA-diagnostics of FH. A number of polymorphisms of the LDL receptor gene were found in St. Petersburg population. The complete information about the LDL receptor gene polymorphisms can be found at http://www.ucl.ac.uk/fh/polypage.html  and http://www.umd.necker.fr/LDLR/Home_Page.html 

 

Polymorphism Molecular event in DNA Exon Rapid test method

c.81 T/C
 (C6C)*

 TGT -> TGC 2 No
c.117 C/T
(C18C) 		 TGC->TGT 2 Loss of SfaN I site
c.1171 G/A
(A370T) 		 GCC->ACC 8 Loss of Stu I site
c.1413 G/A
(R450R) 		 AGG->AGA 10A SSCP-analysis
c.1545 C/T
(N494N) 		 AAC->AAT 10B SSCP-analysis
c.1773 T/C
(N570N) 		 AAT->AAC 12 New Hinc II site
c.1959 C/T
(V632V) 		 GTC->GTT 13 Loss of Ava II site
c.2231 G/A
(R730R) 		 CGG->CGA 15  Loss of Msp I site

Note: "ñ." - denote nucleotide number according to cDNA sequence (Yamamoto et al., 1984).

* - New sequence variants
 

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