Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns

K. Shimizu, T. Harano, K. Harano, S. Miwa, Y. Amenomori, Y. Ohba, F. Kutlar, T. H. Huisman

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in α-globin gene and γ-globin gene arrangements using gene mapping and γ-chain composition analyses. The results confirmed the rarity of α-thalassemia among Japabese; only a few babies had α-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had α-globin gene triplications (both the ααα(anti-3.7) and the ααα(anti-4.2) types). Among the γ-globin gene anomalies that were observed, a few babies had the -(A)γ-(A)γ- globin gene arrangement or the -(G)γ(A)γ- type of deletion. The γ-chain triplication (-(G)γ-(A){G)γ-(A)γ-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -(G)γ(A)γ-deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the γ-globin gene deletion and triplication. The (A)γ(T) variant, which is the product of a mutant (A)γ-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant (A)γ gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with β-thalassemia.

Original languageEnglish (US)
Pages (from-to)45-58
Number of pages14
JournalAmerican Journal of Human Genetics
Volume38
Issue number1
StatePublished - Jul 16 1986

Fingerprint

Globins
Multigene Family
Newborn Infant
Thalassemia
Gene Order
Genes
Sickle Hemoglobin
Tokyo
Chromosome Mapping
DNA Restriction Enzymes
Gene Deletion
Haplotypes
Chromosomes
Enzymes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Shimizu, K., Harano, T., Harano, K., Miwa, S., Amenomori, Y., Ohba, Y., ... Huisman, T. H. (1986). Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns. American Journal of Human Genetics, 38(1), 45-58.

Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns. / Shimizu, K.; Harano, T.; Harano, K.; Miwa, S.; Amenomori, Y.; Ohba, Y.; Kutlar, F.; Huisman, T. H.

In: American Journal of Human Genetics, Vol. 38, No. 1, 16.07.1986, p. 45-58.

Research output: Contribution to journalArticle

Shimizu, K, Harano, T, Harano, K, Miwa, S, Amenomori, Y, Ohba, Y, Kutlar, F & Huisman, TH 1986, 'Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns', American Journal of Human Genetics, vol. 38, no. 1, pp. 45-58.
Shimizu, K. ; Harano, T. ; Harano, K. ; Miwa, S. ; Amenomori, Y. ; Ohba, Y. ; Kutlar, F. ; Huisman, T. H. / Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns. In: American Journal of Human Genetics. 1986 ; Vol. 38, No. 1. pp. 45-58.
@article{6e5306d2c5de474eb68fc3cd2e4f27e5,
title = "Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns",
abstract = "Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in α-globin gene and γ-globin gene arrangements using gene mapping and γ-chain composition analyses. The results confirmed the rarity of α-thalassemia among Japabese; only a few babies had α-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had α-globin gene triplications (both the ααα(anti-3.7) and the ααα(anti-4.2) types). Among the γ-globin gene anomalies that were observed, a few babies had the -(A)γ-(A)γ- globin gene arrangement or the -(G)γ(A)γ- type of deletion. The γ-chain triplication (-(G)γ-(A){G)γ-(A)γ-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -(G)γ(A)γ-deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the γ-globin gene deletion and triplication. The (A)γ(T) variant, which is the product of a mutant (A)γ-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant (A)γ gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with β-thalassemia.",
author = "K. Shimizu and T. Harano and K. Harano and S. Miwa and Y. Amenomori and Y. Ohba and F. Kutlar and Huisman, {T. H.}",
year = "1986",
month = "7",
day = "16",
language = "English (US)",
volume = "38",
pages = "45--58",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

TY - JOUR

T1 - Abnormal arrangements in the α- and γ-globin gene clusters in a relatively large group of Japanese newborns

AU - Shimizu, K.

AU - Harano, T.

AU - Harano, K.

AU - Miwa, S.

AU - Amenomori, Y.

AU - Ohba, Y.

AU - Kutlar, F.

AU - Huisman, T. H.

PY - 1986/7/16

Y1 - 1986/7/16

N2 - Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in α-globin gene and γ-globin gene arrangements using gene mapping and γ-chain composition analyses. The results confirmed the rarity of α-thalassemia among Japabese; only a few babies had α-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had α-globin gene triplications (both the ααα(anti-3.7) and the ααα(anti-4.2) types). Among the γ-globin gene anomalies that were observed, a few babies had the -(A)γ-(A)γ- globin gene arrangement or the -(G)γ(A)γ- type of deletion. The γ-chain triplication (-(G)γ-(A){G)γ-(A)γ-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -(G)γ(A)γ-deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the γ-globin gene deletion and triplication. The (A)γ(T) variant, which is the product of a mutant (A)γ-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant (A)γ gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with β-thalassemia.

AB - Data were obtained on blood samples from a relatively large group (264) of healthy Japanese newborns, collected at hospitals in Tokyo, Kurashiki, and Ube. The studies included an evaluation of anomalies in α-globin gene and γ-globin gene arrangements using gene mapping and γ-chain composition analyses. The results confirmed the rarity of α-thalassemia among Japabese; only a few babies had α-thalassemia-2 trait (the -3.7-kilobase [kb] deletion), while others had α-globin gene triplications (both the ααα(anti-3.7) and the ααα(anti-4.2) types). Among the γ-globin gene anomalies that were observed, a few babies had the -(A)γ-(A)γ- globin gene arrangement or the -(G)γ(A)γ- type of deletion. The γ-chain triplication (-(G)γ-(A){G)γ-(A)γ-) occurred in 10 out of 256 newborns, and its frequency exceeded that of its corresponding -(G)γ(A)γ-deletion by a factor of 5. The restriction endonuclease XmnI was a useful tool, in addition to the enzymes Bg1II and BclI, to evaluate and confirm the γ-globin gene deletion and triplication. The (A)γ(T) variant, which is the product of a mutant (A)γ-globin gene, occurred at a frequency of 0.156. The chromosome carrying this mutant (A)γ gene had a characteristic haplotype that was originally seen in black and Mediterranean patients with Hemoglobin (Hb) S or with β-thalassemia.

UR - http://www.scopus.com/inward/record.url?scp=0022587268&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022587268&partnerID=8YFLogxK

M3 - Article

C2 - 2418679

AN - SCOPUS:0022587268

VL - 38

SP - 45

EP - 58

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -