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Ferdane Kutlar Jose M. Gonzalez-Redondo Abdullah Kutlar Aytemiz Gurgey Çigdem Altay Georgi D. Efremov Klara Kleman Titus H. J. Huisman 《Human genetics》1989,82(2):179-186
Summary Details are given of a study of blood samples from 24 patients with Hb H disease from different Mediterranean countries and from the Far East. Four different types of -thal-1 (--) were observed, namely-() ( 20.5-kb deletion);--MED-I ( 17.5-kb deletion);--MED-II (>26.5-kb deletion); and--SEA ( 18-kb deletion, in Orientals only). The -thal-2 was mainly of the deletion type (16 with the 3.7-kb deletion; 1 with the 4.2-kb deletion), while 4 of the 7 patients with a nondeletional type had the five-nucleotide deletion at the donor splice site of the first intron of the 2 gene. All patients had a mild-to-moderate hemolytic anemia; no significant differences in hematology were observed between the groups. Hb A2 was decreased to about one-third of the normal level. The Hb H formation varied considerably and its quantitation was not always satisfactory. Patients with Hb H disease due to any -thal-1 combined with a nondeletional -thal-2 had the highest Hb H levels and a more marked anemia. The chain production was small and absent in patients with the MED-II type of -thal-1 because this deletion included the and genes. The highest chain levels were present in the four patients with the SEA type of -thal-1. The chain production was increased, particularly in patients with a mutation of C T at position-158 to the G globin gene. This chain was primarily present as Hb Bart's (or 4) and only about 15% was recovered as Hb F or 22. The evaluation of the rate of chains produced in these patients was greatly facilitated by data from one patient who had Hb H disease and a heterozygosity for the A-+. The low levels of Hb A2 and of Hb F (relative to Hb Bart's) can be explained by a decreased affinity of chains for and chains as compared with chains in conditions of severe chain deficiency. 相似文献
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Cihan Öner Aleksandar J. Dimovski Nancy F. Olivieri Gino Schiliro John F. Codrington Sladdehine Fattoum Adekunle D. Adekile Reyhan Öner Gunes T. Yüregir C. Altay A. Gurgey Rashik B. Gupta Vinod B. Jogessar Michael N. Kitundu Dimitris Loukopoulos Gabriel P. Tamagnini M. Leticia S. Ribeiro Ferdane Kutlar Li-Hao Gu Kenneth D. Lanclos Titus H. J. Huisman 《Human genetics》1992,89(1):99-104
Summary We have determined the s haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S--thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the G- and A-globin genes through dot blot analysis of amplified DNA with 32P-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the AT chain [A75 (E19) IleThr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the s gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual s haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal A chromosomes is also presented. 相似文献
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Beta-thalassemia due to a T----A mutation within the ATA box 总被引:2,自引:0,他引:2
Y J Fei T A Stoming G D Efremov D G Efremov R Battacharia J M Gonzalez-Redondo C Altay A Gurgey T H Huisman 《Biochemical and biophysical research communications》1988,153(2):741-747
Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled synthetic oligonucleotide probes. The patient had a clinically severe condition; his Hb Lepore-beta-thalassemia was of the beta + type, as about 8-10% of the non-alpha chain was normal beta A. The same T----A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia intermedia with a low level of Hb F (13.1%) and a relatively high beta A chain synthesis. These data are similar to those obtained for other types of beta +-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the beta-globin gene. 相似文献
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Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis 总被引:3,自引:0,他引:3
Ericson KG Fadeel B Andersson M Gudmundsson GH Gürgey A Yalman N Janka G Nordenskjöld M Henter JI 《Human genetics》2003,112(1):98-99
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perforin were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL. 相似文献
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Omer An Attila Gursoy Aytemiz Gurgey Ozlem Keskin 《Protein science : a publication of the Protein Society》2013,22(6):823-839
Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus‐infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism resulting in a rare but fatal disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL2). Here we report a comprehensive in silico structural analysis of a collection of 76 missense perforin mutations based on a proposed pore model. In our model, perforin monomers oligomerize having cyclic symmetry in consistent with previously found experimental constraints yet having flexibility in the size of the pore and the number of monomers involved. Clusters of the mutations on the model map to three distinct functional regions of the perforin. Calculated stability (free energy) changes show that the mutations mainly destabilize the protein structure, interestingly however, A91V polymorphism, leads to a more stable one. Structural characteristics of mutations help explain the severe functional consequences on perforin deficient patients. Our study provides a structural approach to the mutation effects on the perforin oligomerization and impaired cytotoxic function in FHL2 patients. 相似文献
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