Balkan Journal of Medical Genetics

FREQUENCY OF THREE HEMOCHROMATOSIS GENE MUTATIONS IN ANTALYA, TURKEY
Oztürk S, Lüleci G, Keser I*
*Corresponding Author: Associate Professor Dr. Ibrahim Keser, Department of Medical Genetics, School of Medicine, Akdeniz University, 07070 Antalya, Turkey; Tel.: +90-242-249-6000, Ext: 6973; Fax: +90-242-227-4484; Mobile Tel.:+90-532-788-7644; E-mail: keser@akdeniz.edu.tr
page: 25

RESULTS

The allelic frequencies and genotypes of the mutations found are summarized in Table 1. The H63D mutation was found in the heterozygous state in 30 individuals (21.28%), and in the homozygous state in two individuals (1.42%). The frequencies of the H and D alleles of the H63D mutation were found to be 0.88 and 0.12%, respectively. These results are in keeping with other reports from different population studies (Table 2).

Table 1. Distribution of allelic frequencies of the HFE gene mutations in healthy Turkish individuals

HFE Mutations

Alleles Studied

Number of Individuals

Mutant Allele Frequency

WT/WT

WT/Mut

Mut/Mut

C282Y

282

141

0

0

0.0

S65C

282

141

0

0

0.0

H63D

282

109

30

2

0.12

WT: wild type, Mut: mutated type.

Table 2. Frequencies (%) of the HFE mutations C282Y, H63D and S65C in different populations

Population		Mutant Allele Frequency (%)
	Reference(s)	C828Y	S65C	H63D

Europe:

• Spain

• France

• Italy

• Denmark

• Sweden

• Norway

• Faroe Islands

• Macedonia

9; 10

4; 5

5; 11

1; 13

5; 13

3.0

4.2

1.1

5.7

3.9

6.4

6.6

1.0

0.0

2.5

1.3

1.5

1.6

0.0^a

1.0

5.0

21.7

15.8

11.9

13.3

12.5

11.2

15.3

21.0

The Americas:

• Connecticut, USA

• Missouri, USA

• Alabama, USA

• Brazil

• Ecuador

5.0

4.9

6.0

0.0

0.0^a

4.0

16.0

15.4

12.7

0.0

3.5

Asia:

• China

• Japan

• Turkey

Present study

0.0

2.8

1.5

12.0

0.0^a

0.0

^{a These mutations were not tested for in their studies.}

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