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
SN - 0002-9297
VL - 38
SP - 45
EP - 58
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -