Tuberc Respir Dis.  2001 Feb;50(2):229-235. 10.4046/trd.2001.50.2.229.

Prevalence of alpha1-Antitrypsin Genotypes in Koreans

• Park JY
• Choi JE
• Cha SI
• Bae NC
• Chae PH
• Lee JY
• Kang YM
• Kim CH
• Jung TH

• KMID: 2318303
• DOI: http://doi.org/10.4046/trd.2001.50.2.229

Abstract

BACKGROUND
Alpha-1-antitrypsin (A1AT) deficiency is the only established genetic resk factor for emphysema. This study was undertaken to investigate the prevalence of the genotypes of A1AT genotypes in healthy Koreans. METHOD: The study population consisted of 380 healthy Koreans enrolled at the Health Promotion Center in Kyungpook National University Hospital. The polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) for detecting the A1AT variants M1(Ala), M1(Val), M2, S and Z were used.
RESULTS
The genotypes of subjects were as follows : M1(Val)/M1(Val), 254(66.8%) ; M1(Val)/M2, 105(27.6%) ; M2/M2, 19 (5.0%) ; and M1(Val)/M1(Ala), 2 (0.5%). There was no case with 'deficiency' alleles such as S and Z found in this study.
CONCLUSION
These results suggest that A1AT deficient alleles are either extremely rare or not present in Koreans.

Keyword

α1-antitrypsin; Genotypes; Korean

MeSH Terms

Alleles
Emphysema
Genotype*
Gyeongsangbuk-do
Health Promotion
Polymerase Chain Reaction
Prevalence*