IthaID: 10



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -87 C>G HGVS Name: HBB:c.-137C>G
Hb Name: N/A Protein Info: β nt -87 C>G

Context nucleotide sequence:
TAGACCTCACCCTGTGGAGCCACAC [A/C/G/T] CTAGGGTTGGCCAATCTACTCCCAG (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70458
Size: 1 bp
Located at: β
Specific Location: Promoter 0

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Treisman R, Orkin SH, Maniatis T, Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes., Nature, 302(5909), 591-6, 1983 PubMed
  2. Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kilinc Y, Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes., Blood , 71(1), 248-51, 1988 PubMed
  3. Camaschella C, Alfarano A, Gottardi E, Serra A, Revello D, Saglio G, The homozygous state for the -87 C----G beta + thalassaemia., Br. J. Haematol. , 75(1), 132-3, 1990 PubMed
  4. Meloni A, Rosatelli MC, Faà V, Sardu R, Saba L, Murru S, Sciarratta GV, Baldi M, Tannoia N, Vitucci A, Promoter mutations producing mild beta-thalassaemia in the Italian population., British journal of haematology, 80(2), 222-6, 1992 PubMed
  5. Gilman JG, Manca L, Frogheri L, Pistidda P, Guiso L, Longinotti M, Masala B, Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis., Am. J. Hematol. , 45(3), 265-7, 1994 PubMed
  6. Ilhan O, Beksaç M, Koç H, Akan H, Keskin A, Arslan O, Gürman G, Ozcan M, Konuk N, Uysal A, HLA-DR frequency in Turkish aplastic anemia patients and the impact of HLA-DR2 positivity in response rate in patients receiving immunosuppressive therapy., Blood , 86(5), 2055, 1995 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-05-16 12:16:50 (Show full history)

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