title: A search for anomalies in the zeta, alpha, beta, and gamma globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns.
abstract: Globin gene mapping analyses of DNA from numerous Black babies, and from newborns from Sardinia, Sicily, Turkey, and Spain have identified the following: A high incidence of alpha-thalassemia-2 heterozygotes among Black babies with less than 1% Hb Bart's at birth and a high incidence of alpha-thalassemia-2 among Sardinians, but not among Sicilian, Turkish, and Spanish babies. A relatively high incidence of zeta-thalassemia was present among Black babies only, while triplicated zeta was seen in four of the five populations. Two Black babies were each found to have a different theta 1 deletion; two Sardinian babies had a newly discovered approximately 2.5 kb deletion between zeta and psi zeta; four babies had the rare Bgl II polymorphism between psi zeta and psi alpha; and one Black baby lacked the Eco RI site 3' to zeta. Quantitation of the zeta chain by reversed phase high performance liquid chromatography showed that two-thirds of the babies with four alpha genes (alpha alpha/alpha alpha) had levels between 0.1 and 1.0%, while nearly 90% of the babies with -alpha/alpha alpha had similar levels (averaging 0.2% for alpha alpha/alpha alpha; 0.35% for -alpha/alpha alpha; 0.75% for -alpha/-alpha). Additional data indicated that the occurrence and level of zeta are related to the level of beta, i.e. the gestational age. The presence of a zeta triplication did not affect the level of zeta in cord blood. The extensive search for gamma-globin gene anomalies resulted in the discovery of a chromosome with five gamma genes. gamma-Thalassemia was rare in all populations, while the -G gamma-G gamma- gene arrangement was mainly observed among Black babies; this arrangement is primarily responsible for high G gamma levels in cord blood samples. The strong correlation between the presence or absence of a C----T mutation at position -158 (measured in Xmn I digests) and the level of G gamma was confirmed for adult blood samples. A search for possible anomalies in the -delta-beta- region through gene mapping with Eco RV gave negative results except for the discovery of a polymorphic site 5' to delta in one of the 371 Black babies tested.
authors.affiliation: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: H F
authors.initials: HF
authors.lastname: Harris
authors.forename: M M
authors.initials: MM
authors.lastname: Wilson
authors.forename: A
authors.initials: A
authors.lastname: Milana
authors.forename: P
authors.initials: P
authors.lastname: Sciacca
authors.forename: G
authors.initials: G
authors.lastname: Schiliro
authors.forename: B
authors.initials: B
authors.lastname: Masala
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D044383:Black People / Q000235:genetics; D015342:DNA Probes / Q000032:analysis; D004588:Electrophoresis, Cellulose Acetate; D015321:Gene Rearrangement; D005914:Globins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D005810:Multigene Family; D015183:Restriction Mapping; D013030:Spain; D013789:Thalassemia / Q000097:blood / Q000235:genetics; D014421:Turkey
chemical_list: D015342:DNA Probes; D005914:Globins