摘要:

DNA samples from numerous subjects of different racial and ethnic backgrounds, with or without various hemoglobinopathies (classicalβ-thalassemia; silentβ-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide-530 in the 5’flanking region of theβ-globin gene using amplified DNA and32P-labeled synthetic oligonucleotide probes. The data show that this unusual sequence is a common feature among East-Asians and Blacks (particularly SS patients), and is not associated with mild thalassemic features typical for the silent form ofβ-thalassemia, as has been suggested (5).

ISSN:0363-0269    

DOI:10.3109/03630268908998048

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

We have studied a few members of two Turkish families, who had aβ-thalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association withβ°-thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [β27(B9)Ala→-Ser] which occurred together with the frameshift in codon #8 type ofβ°-thalassemia. This compound heterozygosity, observed for the first time in the Turkish population was characterized by a considerable increase in Hb F production, mainly of theGγtype, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [β69(E13)Gly→Ser] which was present in combination with an unknown type ofβ-thalassemia. The increase in Hb F production in the compound heterozygote was minimal. Reversed phase high performance liquid chromatography and the DNA amplification-synthetic oligonucleotide probe procedure were major tools in identifying the different abnormalities.

ISSN:0363-0269    

DOI:10.3109/03630268908998049

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

Aβ-variant hemoglobin, first misjudged as a marked elevation of Hb A1, was found in a 68-year-old Japanese female with diabetes mellitus. This hemoglobin was isolated by Bio-Rex 70 chromatography combined with chromatofocusing, and was found to be Hb Hope,β136(H14)Gly→Asp, by classical and high performance liquid chromatographic peptide mapping techniques.Intrinsicoxygen affinity of this hemoglobin was approximately one-third as compared with that of Hb A0.his property was still observed in the constituentβsubunits isolated. Effects of such allosteric effectors as H+(at a fixed concentration of Cl−), anion (Cl−), 2,3-diphosphoglycerate and carbon dioxide were more or less depressed. Among others, a marked reduction in the carbamate effect should be noted in a structural interpretation of the functional modifications. Subunit cooperatlvity, on the contrary, was not different from that in Hb A0(n= 2.8-2.9). Explanation of these altered functions were attempted on the basis of the altered structure. The reduced stability of Hb Hope is also described.

ISSN:0363-0269    

DOI:10.3109/03630268908998050

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

As many as 7,717 babies born consecutively and 3,412 blood donors of Sardinian ancestry have been examined for the detection of the Hb J-Sardegna variant [α50(CE8)His→Asp]; all subjects were from Northern Sardinia. Hemolysates were analyzed by isoelectricfocusing and the identification of the variant was made by reversed phase high performance liquid chromatography of the tryptic peptides. A total of 28 carriers (1:397) of Hb J-Sardegna were identified. The incidence of 0.25% makes this hemoglobin one of the most commonα-globin structural mutants in humans. The distribution of the anomaly appears to be non-homogeneous in the island. The quantity of the variant ranged from 19 to 36%; this wide range probably reflects the co-inheritance of anα-thalassemia anomaly.

ISSN:0363-0269    

DOI:10.3109/03630268908998051

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

Globin gene mapping analyses of DNA from numerous Black babies, and from newborns from Sardinia, Sicily, Turkey, and Spain have identified the followingA high incidence ofα-thalassemia-2 heterozygotes among Black babies with less than 1% Hb Bart's at birth and a high incidence ofα-thalassemia-2 among Sardinians, but not among Sicilian, Turkish, and Spanish babies. A relatively high incidence ofζ-thalassemia was present among Black babies only, while triplicatedζwas seen in four of the five populations. Two Black babies were each found to have a differentθl deletion; two Sardinian babies had a newly discoveredβ2.5 kb deletion betweenζandψζ; four babies had the rare Bgl II polymorphism betweenψζandψα; and one Black baby lacked the Eco RI site 3’toζQuantitation of theζchain by reversed phase high performance liquid chromatography showed that two-thirds of the babies with fourαgenes (αα/αα) had levels between 0.1 and 1.0%, while nearly 90% of the babies with -α/ααhad similar levels (averaging 0.2% forαα/αα0.35% for -α/αα0.75% for -α/-α). Additional data indicated that the occurrence and level ofζare related to the level ofβ, i.e. the gestational age. The presence of aζtriplication did not affect the level ofζin cord blood. The extensive search forγ-globin gene anomalies resulted in the discovery of a chromosome with fiveγgenes,γ-Thalassemia was rare in all populations, while the -Gγ-Gγ- gene arrangement was mainly observed among Black babies; this arrangement is primarily responsible for highGγlevels 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 ofGγwas confirmed for adult blood samples. A search for possible anomalies in the -δ-β- region through gene mapping with Eco RV gave negative results except for the discovery of a polymorphic site 5’toδin one of the 371 Black babies tested.

ISSN:0363-0269    

DOI:10.3109/03630268908998052

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998053

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998054

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998055

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998056

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998057

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor