scholarly journals Beta-globin gene cluster haplotypes in the Mapuche Indians of Argentina

1998 ◽  
Vol 21 (4) ◽  
pp. 435-437 ◽  
Author(s):  
Letícia Kaufman ◽  
Francisco R. Carnese ◽  
Alicia Goicoechea ◽  
Cristina Dejean ◽  
Francisco M. Salzano ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
African Ancestry ◽  
Beta Globin ◽  
Simpson Index ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Restriction Sites ◽  
Indian Tribes ◽  
Polymorphic Restriction

Haplotypes derived from five polymorphic restriction sites in the beta-globin gene cluster were investigated in 86 chromosomes from the Argentinian Mapuche. These results were integrated with those previously obtained for ten Brazilian Indian tribes. Eight haplotypes were identified, the most frequent being 2 (57%) and 6 (27%). The presence of haplotype 3 in 2% of the Mapuche chromosomes is probably an evidence of admixture with individuals of African ancestry. Due to the high number of haplotypes observed, heterozygosity as measured by the Gini-Simpson index was higher in the Mapuche than in Brazilian Indians. The haplotypic distribution in the Mapuche was also significantly different from those of all Brazilian tribes investigated. This heterogeneity could be at least partially explained by admixture with non-Indian populations.

scholarly journals Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.

1986 ◽  
Vol 23 (1) ◽  
pp. 14-18 ◽  
Author(s):  
J M Old ◽  
C Heath ◽  
A Fitches ◽  
S L Thein ◽  
A J Jeffreys ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Meiotic Recombination ◽  
Globin Gene ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Restriction Sites ◽  
Polymorphic Restriction

Beta-globin gene cluster haplotype distribution in five Brazilian Indian tribes

1995 ◽  
Vol 98 (4) ◽  
pp. 395-401 ◽  
Author(s):  
Lia R. M. Bevilaqua ◽  
Vanessa S. Mattevi ◽  
Gisele M. Ewald ◽  
Francisco M. Salzano ◽  
Carlos E. A. Coimbra ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Haplotype Distribution ◽  
Indian Tribes

scholarly journals Two independent genetic factors in the beta-globin gene cluster are associated with high G gamma-levels in the HbF of SS patients

Blood ◽  
1984 ◽  
Vol 64 (2) ◽  
pp. 452-457 ◽  
Author(s):  
JG Gilman ◽  
TH Huisman
Keyword(s):  
Gene Cluster ◽  
Restriction Site ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Polymorphic Restriction Site ◽  
Polymorphic Restriction ◽  
Beta Gene

The gamma-chains of fetal hemoglobin (HbF) of newborn babies are composed of about 70% G gamma and 30% A gamma. In most babies, the G gamma value declines postnatally to 40%, but in about 20% of black SS patients from Georgia, 5 years and older, the G gamma level remains high at 60%. Moreover, some 3% to 4% of black newborns have high G gamma values of 85%. PstI digestion of DNA of one such high G gamma baby and of one normal newborn showed the former to be heterozygous for the -G gamma-G gamma- and -G gamma-A gamma-chromosomes. Only about one fourth of high G gamma SS patients were such heterozygotes, while three fourths were -G gamma-A gamma-/-G gamma-A gamma-homozygotes. Analysis of DNA of 38 SS patients without the -G gamma-G gamma-chromosome showed a correlation of G gamma values with genotype at one polymorphic restriction site: at the HincII site in the psi beta gene, all -G gamma- A gamma-/-G gamma-A gamma-homozygotes with high G gamma were +/- or +/+, while low G gamma individuals were all -/-. Family studies, involving analyses at four polymorphic sites (HindIII sites in the G gamma and A gamma genes and HincII sites in the psi beta gene and 3′ to it), suggested the association of an unidentified high G gamma genetic determinant with haplotype + - + +. This indicates that a genetic factor causing high G gamma levels in SS patients is closely linked to the -G gamma-A gamma-psi beta region of the beta-globin gene cluster.

scholarly journals Two independent genetic factors in the beta-globin gene cluster are associated with high G gamma-levels in the HbF of SS patients

Blood ◽  
1984 ◽  
Vol 64 (2) ◽  
pp. 452-457 ◽  
Author(s):  
JG Gilman ◽  
TH Huisman
Keyword(s):  
Gene Cluster ◽  
Restriction Site ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Polymorphic Restriction Site ◽  
Polymorphic Restriction ◽  
Beta Gene

Abstract The gamma-chains of fetal hemoglobin (HbF) of newborn babies are composed of about 70% G gamma and 30% A gamma. In most babies, the G gamma value declines postnatally to 40%, but in about 20% of black SS patients from Georgia, 5 years and older, the G gamma level remains high at 60%. Moreover, some 3% to 4% of black newborns have high G gamma values of 85%. PstI digestion of DNA of one such high G gamma baby and of one normal newborn showed the former to be heterozygous for the -G gamma-G gamma- and -G gamma-A gamma-chromosomes. Only about one fourth of high G gamma SS patients were such heterozygotes, while three fourths were -G gamma-A gamma-/-G gamma-A gamma-homozygotes. Analysis of DNA of 38 SS patients without the -G gamma-G gamma-chromosome showed a correlation of G gamma values with genotype at one polymorphic restriction site: at the HincII site in the psi beta gene, all -G gamma- A gamma-/-G gamma-A gamma-homozygotes with high G gamma were +/- or +/+, while low G gamma individuals were all -/-. Family studies, involving analyses at four polymorphic sites (HindIII sites in the G gamma and A gamma genes and HincII sites in the psi beta gene and 3′ to it), suggested the association of an unidentified high G gamma genetic determinant with haplotype + - + +. This indicates that a genetic factor causing high G gamma levels in SS patients is closely linked to the -G gamma-A gamma-psi beta region of the beta-globin gene cluster.

Beta-Globin Gene Cluster Haplotypes of Amerindian Populations from the Brazilian Amazon Region

1994 ◽  
Vol 44 (3) ◽  
pp. 142-149 ◽  
Author(s):  
João Farias Guerreiro ◽  
Mauro Silvério Figueiredo ◽  
Marco Antonio Zago
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Brazilian Amazon ◽  
Amazon Region ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Brazilian Amazon Region

scholarly journals Z-DNA-forming sites within the human beta-globin gene cluster.

1996 ◽  
Vol 93 (2) ◽  
pp. 780-784 ◽  
Author(s):  
V. Muller ◽  
M. Takeya ◽  
S. Brendel ◽  
B. Wittig ◽  
A. Rich
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Z Dna

scholarly journals Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster

Blood ◽  
1984 ◽  
Vol 64 (5) ◽  
pp. 1053-1058 ◽  
Author(s):  
SH Boyer ◽  
GJ Dover ◽  
GR Serjeant ◽  
KD Smith ◽  
SE Antonarakis ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Sickle Cell ◽  
Genetic Locus ◽  
Globin Gene ◽  
The United States ◽  
Beta Globin ◽  
Cell Production ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Sib Pairs

Abstract Levels of fetal hemoglobin (HbF) bearing reticulocytes (F reticulocytes) range from 2% to 50% in patients with sickle cell (SS) anemia. To learn whether any portion of such variation in F cell production is regulated by loci genetically separable from the beta- globin gene cluster, percentages of F reticulocytes were compared in 59 sib pairs composed solely of SS members, including 40 pairs from Jamaica and 19 from the United States. We reasoned that differences in F reticulocyte levels might arise (1) from any of several kinds of artifact, (2) via half-sib status, or (3) because one or more genes regulating F cell production segregate separately from beta S. We minimized the role of artifact by assay of fresh samples from 84 SS individuals, including both members of 38 sib pairs. In 78 of the 84 subjects, serial values for percent F reticulocytes fell within 99.9% confidence limits or were alike by t test (P greater than or equal to .05). This left 32 sib pairs for which F reticulocyte levels in each member were reproducible. When sib-sib comparisons were limited to these 32 pairs, percentages of F reticulocytes were grossly dissimilar within 12 Jamaican and 3 American sibships. Within them, the probability that sibs were alike was always less than or equal to .005 and usually less than or equal to 10(-4). We next minimized the contribution of half-sibs among Jamaicans by a combination of paternity testing and sib-sib comparison of beta-globin region DNA restriction fragment length polymorphisms, especially among discordant pairs. We thereafter concluded that at least seven to eight Jamaican pairs were composed of reproducibly discordant full sibs. There is thus little doubt that there are genes regulating between-patient differences in F cell production that are separate from the beta-globin gene cluster. Still unanswered is (1) whether or not these genes are actually linked to beta S, (2) why F reticulocyte levels in Americans tend to be lower than in Jamaicans, and (3) whether or not differences in F cell production among SS patients are regulated by several major loci or by only one.

Beta-globin gene cluster haplotypes in two North American indigenous populations

2000 ◽  
Vol 112 (3) ◽  
pp. 311-317 ◽  
Author(s):  
Vanessa S. Mattevi ◽  
Marilu Fiegenbaum ◽  
Francisco M. Salzano ◽  
Kenneth M. Weiss ◽  
John Moore ◽  
...  
Keyword(s):  
Gene Cluster ◽  
North American ◽  
Globin Gene ◽  
Indigenous Populations ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster

scholarly journals A novel basis for delta beta-thalassemia in a Chinese family

Blood ◽  
1986 ◽  
Vol 68 (5) ◽  
pp. 1108-1113 ◽  
Author(s):  
GF Atweh ◽  
DE Zhu ◽  
BG Forget
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Beta Thalassemia ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Beta Globin ◽  
Hemoglobin F ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Alpha Beta

Abstract We have studied a Chinese family in which beta-thalassemia and delta beta-thalassemia were found in simple and compound heterozygous states. The delta beta-thalassemia heterozygote (the mother) had 22.3% hemoglobin F, of which 40% was G gamma and 60% A gamma; globin chain studies showed an alpha/beta + gamma ratio of 1.36. The compound heterozygote for delta beta-thalassemia and beta-thalassemia (the child) had the clinical picture of thalassemia intermedia and an alpha/beta + gamma ratio of 4.44. Gene mapping studies were performed using DNA from the affected child. Seventy kilobases of DNA in the beta- globin gene cluster starting upstream from the epsilon-globin gene and ending downstream from the beta-globin gene were mapped, and no detectable deletions or rearrangements were detected. In addition, heterozygosity was detected at multiple polymorphic restriction sites in and 3′ to the beta-globin gene, which excludes the possibility of a deletion of the entire beta-globin gene cluster. This is the first example of a nondeletion delta beta-thalassemia associated with increased expression of both G gamma and A gamma genes.

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