摘要:

A new type ofα-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying aζ-globin triplication. The resulting chromosome lacks theα2- andα1-globin genes, theψα2- andψα1-globin genes, and one of the threeζ-globin genes, while the other twoζ-globin genes and the 01-globin gene have been retained.

ISSN:0363-0269    

DOI:10.3109/03630268908998060

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

AE-Bart's disease is a thalassemia intermedia resulting from the interaction betweenα-thalassemia and heterozygous Hb E. In this study we analyzed theα-globin genes of 25 patients designated as AE-Bart's disease by starch gel electrophoresis. Twenty-one cases had Hb Constant Spring in addition to Hbs E + A + Bart's, and the remaining four cases had only Hbs E + A + Bart's. DNA mapping revealed theα-globin genotype ofα-thalassemia-1/α-thalas-semia-2 in four patients who had Hbs E + A + Bart's, whereas theαgenotype of the remainder isα-thalassemia-1/nondeletionα-thalassemia. The nondeletionα-thalassemia is Hb Constant Spring as indicated by starch gel electrophoresis. Hematologic data and hemoglobin analysis showed that Constant Spring-AE-Bart's disease is a more severe clinical syndrome than AE-Bart's disease.

ISSN:0363-0269    

DOI:10.3109/03630268908998061

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

Humanα-globin gene mapping was carried out using a variety of restriction endonucleas es (Bgl II, Bam HI, Hind III, Eco RI, Hpa I, Pvu II and Rsa I) on members of a family from El Salvador and a female from Hawaii, of Chinese descent, whose hematological and clinical parameters were those ofβ-thalassemia intermedia. Southern blot DNA analysis showed that theβ-thalassemia intermedia patients from the above two families had the same anti 3.7 type quadruplicated 7alfa;-genes on the one chromosome, and that they had theαgenotypeα2,α1α2,α1α2,α1/α2,α1.Theα/βglobin synthesis ratios of the three affected Salvadoran patients were around 2.5, and the affected Hawaiian patient was 2.9. These ratios strongly suggest that the additionalα-genes in the anti 3.7 type rearrangement are biologically active, thus accounting for the severity of the heterozygousβ-thalassemia observed among these patients.

ISSN:0363-0269    

DOI:10.3109/03630268908998062

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

The DNA polymorphisms at the seven restriction sites in theβ-globin gene cluster in healthy Koreans were examined using four restriction endonucleases, Hinc II, Hind III, Ava II, and Bam HI. Seven (f=0.326) and four individuals (f=0.246) were homozygous for [+—–+] and [+—-+-], respectively, among 66 individuals examined. As to the subhaplotypes 5′to theα-globin gene, 25 (f=0.615) and three individuals (f = 0.213) were homozygous for [+—-] and [-+-++], respectively. The frequency of [-++-+], which carries the AγT-globin gene, may be low in this population. It was recognized again that [+/+] at the Hinc II site 5′to theϵ-globin gene always accompanied [–/–] at the Hinc II sites in and 3′to theψβ1 -globin gene. The Korean, Japanese, and Chinese populations were not significantly different from each other in their haplotypes (subhaplotypes).The frequencies of the abnormalα- andγ-globin gene arrangements in Koreans were low.α-Thalassemia may occurr at low frequency in Koreans.

ISSN:0363-0269    

DOI:10.3109/03630268908998063

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

摘要:

Hb New York [β113(G15)Val→Glu] has been cross-linked with bis (3, 5-dibromosalicyl) fumarate, a reagent known to cross-link Lys 82β1and Lys 82β2. Thermal denaturations of met Hb New York and its derivative have been compared to those of the corresponding Hb A samples. The structural transitions, observed as absorbance changes at 418 nm, were at 40.2°C for Hb New York, 42.2°C for Hb A, 53.7°C for cross-linked Hb New York, and 56.2°C for cross-linked Hb A. Transitions observed at 280 nm were approximately 2°C higher. Thus, a single inter-subunit cross-link can stabilize an abnormal hemoglobin. A model of Hb New York in which Gluβ113 forms a salt bridge to Hisβ117 can explain the small changes in both the stability and the electrophoretic mobility of this protein.

ISSN:0363-0269    

DOI:10.3109/03630268908998064

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998065

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998066

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998067

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998068

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630268908998069

出版商:Taylor&Francis    

年代:1989

数据来源: Taylor