rs33915217 C>T

Клиническая значимость

Требует внимания (вероятно патогенная в ClinVar)

Краткое описание

Мутация rs33915217 C>T расположена в гене HBB и представляет собой однонуклеотидную замену "C" на "T" в позиции 5,226,925 в хромосоме 11.

Для заболевания "Бета-талассемия", считается, что мутация представляет опасность, хотя в этом нет абсолютной уверенности (патогенная с вероятностью не менее 90%).

Мутация упоминается в статье ресурса SNPedia: "Бета-талассемия".

Для заболевания "Бета-плюс-талассемия" данная мутация представляет собой опасность, является патогенной.

Частота встречаемости в мире 2 на 100 000 человек (по данным проекта dbGaP_PopFreq). Данных о частоте встречаемости в России не найдено. В англоязычной литературе существует не менее 24 публикаций об этой мутации.

Связанные болезни и признаки

Бета-талассемия (MONDO:0019402, MedGen, Orphanet)

требует внимания (вероятно патогенная в clinvar)

Clinvar

SNPedia

Бета-плюс-талассемия (MedGen)

требует внимания
(патогенная в clinvar)

Clinvar

Международные публикации в PubMed

1. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS

Genet Med 2013 Mar

2. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing.

Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH Jr

Blood 1987 Jul

3. Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.

Muñiz A, Martinez G, Lavinha J, Pacheco P

Am J Hematol 2000 May

4. Beta-Thalassemia

Origa R, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A

1993

5. Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

Lapoumeroulie C, Pagnier J, Bank A, Labie D, Krishnamoorthy R

Biochem Biophys Res Commun 1986 Sep 14

6. Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.

Fattoum S, Guemira F, Oner C, Oner R, Li HW, Kutlar F, Huisman TH

Hemoglobin 1991

7. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH Jr

Proc Natl Acad Sci U S A 1984 May

8. Beta-thalassemia in Turkey.

Oner R, Altay C, Gurgey A, Aksoy M, Kilinç Y, Stoming TA, Reese AL, Kutlar A, Kutlar F, Huisman TH

Hemoglobin 1990

9. Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.

Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC

Blood 1988 Sep

10. Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.

Chassanidis C, Boutou E, Voskaridou E, Balassopoulou A

PLoS One 2016

11. Expression of a beta thalassemia gene with abnormal splicing.

Lapoumeroulie C, Acuto S, Rouabhi F, Labie D, Krishnamoorthy R, Bank A

Nucleic Acids Res 1987 Oct 26

12. Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.

Gonzalez-Redondo JM, Stoming TA, Kutlar F, Kutlar A, Hu H, Wilson JB, Huisman TH

Hemoglobin 1989

13. Heterozygosity for the IVS-I-5 (G--&gt;C) mutation with a G--&gt;A change at codon 18 (Val--&gt;Met; Hb Baden) in cis and a T--&gt;G mutation at codon 126 (Val--&gt;Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.

Divoky V, Bissé E, Wilson JB, Gu LH, Wieland H, Heinrichs I, Prior JF, Huisman TH

Biochim Biophys Acta 1992 Dec 10

14. Intrinsic differences between authentic and cryptic 5' splice sites.

Roca X, Sachidanandam R, Krainer AR

Nucleic Acids Res 2003 Nov 1

15. IVS-I-1 (G--&gt;C) in combination with -42 (C--&gt;G) in the promoter region of the beta-globin gene in patients from Tajikistan.

Fedorov AN, Nasyrova FYu, Smirnova EA, Bocharova TN, Limborska SA

Hemoglobin 1993 Jun

16. Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG

EMBO J 1984 Mar

17. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi AR

J Hum Genet 2004

18. Molecular spectrum of beta-thalassemia in the Mexican population.

Perea FJ, Magaña MT, Cobián JG, Sánchez-López JY, Chávez ML, Zamudio G, Esparza MA, López-Guido B, Ibarra B

Blood Cells Mol Dis 2004 Sep-Oct

19. Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

Eigel A, Schnee J, Oehme R, Horst J

Hum Genet 1989 Mar

20. Prenatal and newborn screening for hemoglobinopathies.

Hoppe CC

Int J Lab Hematol 2013 Jun

21. Sickle cell-beta+ thalassaemia in Orissa State, India.

Kulozik AE, Bail S, Kar BC, Serjeant BE, Serjeant GE

Br J Haematol 1991 Feb

22. Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.

Treisman R, Orkin SH, Maniatis T

Nature 1983 Apr 14

23. ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, El Beshlawy A, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M

Clin Chem Lab Med 2010 Dec

24. The molecular basis of beta thalassaemia in Bulgaria.

Kalaydjieva L, Eigel A, Horst J

J Med Genet 1989 Oct

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rs33915217 C>T

Синонимы

Клиническая значимость

Краткое описание