scholarly journals 549 VISUALIZATION OF HUMAN GLOBIN GENES BY RESTRICTION ENDONUCLEASE MAPPING: A NEW APPROACH TO THE PRENATAL DIAGNOSIS OF GLOBIN GENE DELETION

1978 ◽  
Vol 12 ◽  
pp. 455-455
Author(s):  
Stuart H Orkin ◽  
D G Nathan
Keyword(s):  
Prenatal Diagnosis ◽  
Restriction Endonuclease ◽  
Gene Deletion ◽  
Globin Gene ◽  
Globin Genes ◽  
New Approach ◽  
Restriction Endonuclease Mapping ◽  
Endonuclease Mapping

Application of Endonuclease Mapping to the Analysis and Prenatal Diagnosis of Thalassemias Caused by Globin-Gene Deletion

1978 ◽  
Vol 299 (4) ◽  
pp. 166-172 ◽  
Author(s):  
Stuart H. Orkin ◽  
Blanche P. Alter ◽  
Cigdem Altay ◽  
Maurice J. Mahoney ◽  
Herbert Lazarus ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Deletion ◽  
Globin Gene ◽  
Endonuclease Mapping

scholarly journals The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes

Blood ◽  
1984 ◽  
Vol 63 (5) ◽  
pp. 1253-1257
Author(s):  
AE Felice ◽  
MP Cleek ◽  
K McKie ◽  
V McKie ◽  
TH Huisman
Keyword(s):  
Restriction Endonuclease ◽  
Globin Gene ◽  
Hydrops Fetalis ◽  
Biochemical Data ◽  
Globin Genes ◽  
Gene Complex ◽  
Alpha Thalassemia ◽  
Zeta Globin Gene ◽  
Endonuclease Mapping ◽  
Hbh Disease

Restriction endonuclease mapping with alpha and zeta-globin gene probes showed differences between the alpha-thalassemia-1 (alpha-thal-1) condition in two patients with HbH disease. One patient had the rare black type of alpha-thal-1 together with alpha-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (alpha-thal-2), and alpha-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a zeta-probe were obtained from the Laotian type of alpha-thal-1, neither alpha nor zeta-gene fragments could be identified deriving from the black type of alpha-thal-1. Therefore, the black type of alpha-thal-1 is associated with a deletion of the entire zeta 2-psi zeta-psi alpha-alpha 2-alpha 1 gene complex and can be considered a zeta alpha-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks.

scholarly journals The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes

Blood ◽  
1984 ◽  
Vol 63 (5) ◽  
pp. 1253-1257 ◽  
Author(s):  
AE Felice ◽  
MP Cleek ◽  
K McKie ◽  
V McKie ◽  
TH Huisman
Keyword(s):  
Restriction Endonuclease ◽  
Globin Gene ◽  
Hydrops Fetalis ◽  
Biochemical Data ◽  
Globin Genes ◽  
Gene Complex ◽  
Alpha Thalassemia ◽  
Zeta Globin Gene ◽  
Endonuclease Mapping ◽  
Hbh Disease

Abstract Restriction endonuclease mapping with alpha and zeta-globin gene probes showed differences between the alpha-thalassemia-1 (alpha-thal-1) condition in two patients with HbH disease. One patient had the rare black type of alpha-thal-1 together with alpha-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (alpha-thal-2), and alpha-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a zeta-probe were obtained from the Laotian type of alpha-thal-1, neither alpha nor zeta-gene fragments could be identified deriving from the black type of alpha-thal-1. Therefore, the black type of alpha-thal-1 is associated with a deletion of the entire zeta 2-psi zeta-psi alpha-alpha 2-alpha 1 gene complex and can be considered a zeta alpha-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks.

scholarly journals Restriction endonuclease mapping of the human γ globin gene loci

1979 ◽  
Vol 6 (7) ◽  
pp. 2519-2544 ◽  
Author(s):  
Dorothy Tuan ◽  
P.Andrew Biro ◽  
Jon K. deRiel ◽  
Herbert Lazarus ◽  
Bernard G. Forget
Keyword(s):  
Restriction Endonuclease ◽  
Globin Gene ◽  
Restriction Endonuclease Mapping ◽  
Endonuclease Mapping

Alien chromatin in wheat: ribosomal DNA spacer probes for detecting specific nucleolar organizer region loci introduced into wheat

1986 ◽  
Vol 28 (5) ◽  
pp. 665-672 ◽  
Author(s):  
R. Appels ◽  
C. L. McIntyre ◽  
B. C. Clarke ◽  
C. E. May
Keyword(s):  
Restriction Endonuclease ◽  
Ribosomal Dna ◽  
Organizer Region ◽  
Nucleolar Organizer Region ◽  
Nucleolar Organizer ◽  
Molecular Probes ◽  
Restriction Endonuclease Mapping ◽  
Endonuclease Mapping ◽  
Alien Chromatin

The structure, at the level of restriction endonuclease mapping, of rDNA spacer regions from representatives of the B, R, S, P, N, J1J2, and E genomes within the Triticeae are compared. The results indicate that the evolution of the main spacer region of rDNA units is sufficiently rapid to allow each genome to be clearly identified. The spacer regions can be successfully used to distinguish respective alien rDNA units when they are present in wheat.Key words: Triticeae, alien chromatin, molecular probes, NOR loci.

Restriction endonuclease mapping of three plasmids from Bacillus thuringiensis var. israelensis

Gene ◽  
1985 ◽  
Vol 36 (1-2) ◽  
pp. 169-171 ◽  
Author(s):  
Burton D. Clark ◽  
Thomas M. Boyle ◽  
Chu Cho-Yam ◽  
Donald H. Dean
Keyword(s):  
Bacillus Thuringiensis ◽  
Restriction Endonuclease ◽  
Restriction Endonuclease Mapping ◽  
Endonuclease Mapping

Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction

Blood ◽  
1983 ◽  
Vol 62 (1) ◽  
pp. 226-229 ◽  
Author(s):  
MA Melis ◽  
M Pirastu ◽  
R Galanello ◽  
M Furbetta ◽  
T Tuveri ◽  
...  
Keyword(s):  
Globin Gene ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Phenotypic Effect ◽  
Screening Programs ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Red Blood Cell Indices ◽  
Endonuclease Mapping ◽  
Glucose 6 Phosphate Dehydrogenase

In this study, we carried out restriction endonuclease mapping in order to characterize the alpha-globin genotype of 10 Sardinian beta 0- thalassemia heterozygotes, all of whom presented with normal red blood cell indices and increased HbA2 levels. In 8 of these subjects, we found the deletion of two alpha-globin genes (-alpha/-alpha), and in the remaining two the deletion of a single alpha-globin gene (- alpha/alpha alpha). In three of these carriers with the (-alpha/-alpha) alpha-globin genotype and in one with the (-alpha/alpha alpha) genotype, we also found the glucose-6-phosphate dehydrogenase (G6PD) defect of the Mediterranean type. On the basis of these findings, we may conclude that the interaction of heterozygous beta 0-thalassemia with alpha-thalassemia, due to the deletion of either one or two alpha- globin genes, may lead to the production of red blood cells with normal indices. The association of the G6PD defect with this thalassemia gene complex may eventually contribute to this effect. We suggest, therefore, that screening programs for heterozygous beta-thalassemia in populations where alpha-thalassemia is also prevalent, should incorporate the determination of HbA2 in the first set of tests.

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