Compound heterozygosity for alpha-1-antitrypsin (Siiyama and QOclayton) in an oriental patient

Internal Medicine

Volumn 40, Issue 4, 2001, Pages 336-340

  Miyahara, Nobuaki ^c   Seyama, Kuniaki ^a   Sato, Teruhiko ^a   Fukuchi, Yoshinosuke ^a   Eda, Ryosuke ^c   Takeyama, Hiroyasu ^c   Harada, Mine ^b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c NATIONAL SANYO HOSPITAL   (Japan)

Author keywords

Alpha 1 antitrypsin deficiency; Japanese; Pulmonary emphysema

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; AMINO ACID SEQUENCE; ARTICLE; ASIAN; CASE REPORT; EMPHYSEMA; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIABILITY; GENETICS; HETEROZYGOTE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EMPHYSEMA; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; VARIATION (GENETICS);

EID: 0035320904     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.40.336     Document Type: Article

References (24)

1. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 84: 13-31, 1988.
2. Crystal RG. The alpha 1-antitrypsin gene and its deficiency states. Trends Genet 5: 411-417, 1989.
3. Yamamoto Y, Sawa R, Okamoto N, Matsui A, Yanagisawa M, Ikemoto S. Deletion 14q (q24.3 toq32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi (α1-antitrypsin). Hum Genet 74: 190-192, 1986.
4. Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. Am J Hum Genet 46: 602-612, 1990.
5. iiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J Biol Chem 266: 12627-12632, 1991.
6. Yuasa I, Sugimoto Y, Ichinose M, et al. PI*S (iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. Jpn J Hum Genet 38: 185-191, 1993.
7. iiyama (Ser53 [TCC] to Phe53 [TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med 152: 2119-2126, 1995.
8. Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL. A frame-shift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem 263: 7330-7335, 1988.
9. iiyama) with pulmonary emphysema. Nihon Kokyuki Gakkai Zasshi 37: 733-738, 1999 (in Japanese, Abstract in English).
10. Brantly M, Lee JH, Hildeshiem J, et al. Alpha 1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant. Am J Respir Cell Mol Biol 16: 225-231, 1997.
11. Laurell CB, Eriksson S. The electrophoretic alpha-1-globulin pattern of serum alpha-1-antitrypsin deficiency. Scan J Clin Lab Invest 15: 132-140, 1963.
12. Seersholm N, Kok-Jensen A, Dirksen A. Decline in FEV1 among patients with severe hereditary alpha 1-antitrypsin deficiency type PiZ. Am J Respir Crit Care Med 152: 1922-1925, 1995.
13. Crystal RG, Brantly ML, Hubbard RC, Curiel DT, States DJ, Holmes MD. The alpha-1-antitrypsin gene and its mutations. Chest 95: 196-208, 1989.
14. Yuasa I, Suenaga K, Gotoh Y, Ito K, Yokoyama N, Okada K. PI (alpha-1-antitrypsin) polymorphism in the Japanese: Confirmation of PiM4 and description of new PI variants. Hum Genet 67: 209-212, 1984.
15. Miyake K, Suzuki H, Oka H, Oda T, Harada S. Distribution of α1-antitrypsin phenotype in Japanese: description of PiM subtypes by isoelectric focusing. Jpn J Hum Genet 24: 55-62, 1979.
16. Saha, N. α1-Protease inhibitor (PI) subtypes in seven populations of East Asia. Ann Hum Biol 17: 229-234, 1990.
17. Kamboh MI, Kirk RL, Clark P. Alpha-1-antitrypsin (PI) types in Asian, Pacific and aboriginal Australian populations. Dis Markers 1:33-42, 1983.
18. Cox DW, Billingsley GD. Restriction enzyme Mae III for prenatal diagnosis of alpha 1-antitrypsin deficiency. Lancet 2 (8509): 741-742, 1986 (letter).
19. Nukiwa T, Brantly M, Ogushi F, et al. Characterization of the MI (Ala213) type of αl-antitrypsin, a newly recognized, common "normal" α1-antitrypsin haplotype. Biochemistry 26: 5259-5267, 1987.
20. Cox DW, Billingsley GD. Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes. Am J Hum Genet 44: 844-854, 1989.
21. Brantly M. Alpha 1-antitrypsin genotypes and phenotypes. in: Crystal RG, Ed. Alpha 1-antitrypsin deficiency: Lung Biology in Health and Disease, Marcel Dekker Inc., New York, 1996: 45-60.
22. Satoh K, Nukiwa T, Brantly M, et al. Emphysema associated with complete absence of alpha 1-antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet 42: 77-83, 1988 (published erratum appears in Am J Hum Genet 42: 789, 1988).
23. Fraizer GC, Siewertsen M, Harrold TR, Cox DW. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton. Hum Genet 83: 377-382, 1989.
24. Faber JP, Poller W, Weidinger S, et al. Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*QO alleles and one deficient PI*M allele. Am J Hum Genet 55: 1113-1121, 1994.