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Table 1 List of mutations and polymorphisms in the LDL receptor gene in Petrozavodsk FH sample and methods of their detection

From: Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum

Mutation, systematic name [name according to Yamamoto nomenclature] [11]

Nucleotide change

Exon/intron

Rapid test method

Occurrence in other populations [3],[5]

Number of families (patients) with the mutation or rare allele frequency

Missense-mutations

p. (Gly20Arg) [=p. G(−2)R]

c.58 G > A

exon 1

Fau I

France, Austria, The Netherlands, New Zealand, Turkey, Croatia

1 (1)

p. (Ser206Arg) [=p.S185R]

c.618 T > G

exon 4B

Bse21 I

None (New)

1 (1)

p. (Ser447Cys) [=p. S426C]

c.1340C > G

exon 9

BslFI

None (New)

1 (2)

p. (Leu511Ser) [=p. L490S]

c.1532 T > C

exon 10B

AclI

Italy

1 (1)

p. (Leu646Ile) [=p. L625I]

c.1936C > A

exon 13

SSCP

None (New)

2 (2)

Frameshift mutations

p. (Ser65Glyfs*64) [=FsS44:D108X]

c.192_201delinsGGACTTCA

exon 3

Hph I

None (New)

1 (2)

p. (Val66Cysfs*64) [=FsV45:D108X]

c.195_196insT

exon 3

SSCP

None (New)

1 (1)

p. (Pro309Lysfs*59) [=FsE287: V348X] (FH North Karelia)

c.925_931del

exon 6

Bcc I

Finland, Sweden, USA, St.Petersburg

1 (2)

p. (Trp562Cysfs*5) [=FsW541:L547X]

c.1686_1693delinsT

exon 11

Hae III

None (New)

1 (2)

p. (Val731Serfs*6) [=FsV710:V715X]

c.2191delG

exon 15

SSCP

None (New)

1 (2)

Putative splice site mutations or neutral mutations

p. (Asn591=) [=p.N570N]

c. 1773C > T

exon 12

Hinc II

USA, China, Morocco, etc.

16%

Neutral mutations/polymorphisms

p. (Ala391Thr) [=p. A370T]

c. 1171G > A

exon 8

Stu I

South Africa, England, France etc.

6%

Silent mutations/polymorphisms

p. (Ile398=) [=p. I377I]

c.1194C > T

exon 9

Bse3D I

Austria

4 (4)

p. (Arg471=) [=p. R450R]

c.1413 G > A

exon 10A

BslFI

South Africa, Japan, Russia, Morocco etc.

34%

p. (Pro539=) [= p. P518P]

c.1617C > T

exon 11

BspACI

Morocco, China, Russia, etc.

5%

p. (Asn640=) [=p. N619N]

p.1920C > T

exon 13

Sse 9 I

Hispania, Austria.

1 (2)

p. (Val653=) [=p. V632V]

c.1959C > T

exon 13

Asp S9 I

The Netherlands, USA, Russia, etc.

49%

p. (Arg744=) [=p. R723R]

c.2232 G > A

exon 15

Msp I

Germany, China.

21%

  1. Footnote: SSCP – single-strand conformation polymorphism analysis. Numeration of nucleotides and aminoacids follows modern nomenclature (numerals according to Yamamoto’s nomenclature [11] are given in brackets.
  2. Footnote: Asterisk indicates that the codon with frameshift is followed by several non-wildtype codons up to newly appeared termination codon. For example, script p. (Trp562Cysfs*5) indicates that the frameshift occurs in codon 562 for tryptophan that is changed to codon for cysteine and is followed by 5 non-wildtype codons prior to termination codon.
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BMC Medical Genetics

ISSN: 1471-2350

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