Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Alternate IDs |
GM17342 [HEMOGLOBIN F, HEREDITARY PERSISTENCE OF] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Ethnicity
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GHANAIAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Remarks |
Ghanaian; homozygous for hereditary persistence of fetal Hb (HPFH-2); both G-gamma and A-gamma chains are synthesized; delta and beta globin gene DNA are deleted; heterozygous for elliptocytosis; 46, XY |
| Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005 |
| PubMed ID: 16251457 |
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| Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002 |
| PubMed ID: 12196404 |
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| Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA, Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science239:487-91 1988 |
| PubMed ID: 2448875 |
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| Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H, Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol51 Pt 1:263-73 1986 |
| PubMed ID: 3472723 |
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| Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA, Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature324:163-6 1986 |
| PubMed ID: 3785382 |
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| Scharf SJ, Horn GT, Erlich HA, Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science233:1076-8 1986 |
| PubMed ID: 3461561 |
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| Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N, Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science230:1350-4 1985 |
| PubMed ID: 2999980 |
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| Semenza GL, Malladi P, Surrey S, Delgrosso K, Poncz M, Schwartz E, Detection of a novel DNA polymorphism in the beta-globin gene cluster. J Biol Chem259:6045-8 1984 |
| PubMed ID: 6327661 |
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| Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983 |
| PubMed ID: 6196781 |
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| Simmons JG, Fuller CR, Buchanan PD, Yount WJ, Distribution of surface, cytoplasmic and secreted IgG subclasses in human lymphoblastoid cell lines and normal peripheral blood lymphocytes. Scand J Immunol14:1-13 1981 |
| PubMed ID: 7313555 |
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| Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature285:335-7 1980 |
| PubMed ID: 6154897 |
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| Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man. Nature279:598-603 1979 |
| PubMed ID: 450109 |
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| Ringelhann B, Konotey-Ahulu FI, Lehmann H, Lorkin PA, A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis. Acta Haematol43:100-10 1970 |
| PubMed ID: 4986189 |
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