A novel 33·3 kb deletion (‐ ‐KOL) in the alpha‐globin gene cluster: a brief report on deletional alpha‐thalassaemia in the heterogeneous eastern Indian population
Summary We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, ‐ ‐KOL, in the heterozygous state, encompassing the embryonic zeta2‐globin and the duplicated alpha‐globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 b...
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| Published in | British journal of haematology Vol. 130; no. 3; pp. 454 - 457 |
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| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Science Ltd
01.08.2005
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Summary
We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, ‐ ‐KOL, in the heterozygous state, encompassing the embryonic zeta2‐globin and the duplicated alpha‐globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha‐thalassaemia patients are −3·7 kb (16·25%), −4·2 kb (5%) and ‐ ‐SEA (3·33%). |
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| AbstractList | Summary
We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, ‐ ‐KOL, in the heterozygous state, encompassing the embryonic zeta2‐globin and the duplicated alpha‐globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha‐thalassaemia patients are −3·7 kb (16·25%), −4·2 kb (5%) and ‐ ‐SEA (3·33%). Summary We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, ‐ ‐KOL, in the heterozygous state, encompassing the embryonic zeta2‐globin and the duplicated alpha‐globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha‐thalassaemia patients are −3·7 kb (16·25%), −4·2 kb (5%) and ‐ ‐SEA (3·33%). |
| Author | Sarkar, Anjali Angelika Ghosh, Moloy Chandra, Sharmila Dasgupta, Uma B. Choudhury, Manju Datta Banerjee, Debashish Banerjee, Subrata Das, Manikanchan |
| Author_xml | – sequence: 1 givenname: Anjali Angelika surname: Sarkar fullname: Sarkar, Anjali Angelika – sequence: 2 givenname: Subrata surname: Banerjee fullname: Banerjee, Subrata – sequence: 3 givenname: Sharmila surname: Chandra fullname: Chandra, Sharmila – sequence: 4 givenname: Moloy surname: Ghosh fullname: Ghosh, Moloy – sequence: 5 givenname: Debashish surname: Banerjee fullname: Banerjee, Debashish – sequence: 6 givenname: Manju Datta surname: Choudhury fullname: Choudhury, Manju Datta – sequence: 7 givenname: Manikanchan surname: Das fullname: Das, Manikanchan – sequence: 8 givenname: Uma B. surname: Dasgupta fullname: Dasgupta, Uma B. |
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| Cites_doi | 10.1136/bmj.320.7247.1468 10.1182/blood.V98.1.250 10.1136/jms.5.1.31 10.1046/j.1365-141.2003.04704.x 10.1002/ajh.2830460309 10.1002/j.1460-2075.1984.tb02051.x |
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| References | 1989; 73 1994; 46 2000; 320 1984; 3 1998; 5 2003; 123 1992; 82 2001; 98 e_1_2_6_8_1 Dode C. (e_1_2_6_4_1) 1992; 82 e_1_2_6_5_1 e_1_2_6_7_1 Higgs D.R. (e_1_2_6_6_1) 1989; 73 e_1_2_6_3_1 e_1_2_6_2_1 Winichagoon P. (e_1_2_6_9_1) 1984; 3 |
| References_xml | – volume: 320 start-page: 1468 year: 2000 article-title: Statistics notes: the odds ratio publication-title: British Medical Journal – volume: 73 start-page: 1081 year: 1989 end-page: 1104 article-title: A review of the molecular genetics of the human ‐globin gene cluster publication-title: British Journal of Haematology – volume: 98 start-page: 250 year: 2001 end-page: 251 article-title: A rapid and reliable 7‐deletion multiplex polymerase chain reaction assay for alpha‐thalassemia publication-title: Blood – volume: 82 start-page: 105 year: 1992 end-page: 111 article-title: Rapid analysis of ‐ 3·7 thalassaemia and anti 3·7 triplication by enzymatic amplification analysis publication-title: British Journal of Haematology – volume: 5 start-page: 31 year: 1998 end-page: 33 article-title: Prevalence and molecular basis of alpha‐thalassaemia in British South East Asian publication-title: Journal of Medical Screening – volume: 123 start-page: 942 year: 2003 end-page: 947 article-title: Determination of breakpoint and molecular diagnosis of a common ‐thalassaemia‐1 deletion in the Indian population publication-title: British Journal of Haematology – volume: 3 start-page: 1813 year: 1984 end-page: 1815 article-title: The molecular basis of alpha‐thalassemia in Thailand publication-title: EMBO Journal – volume: 46 start-page: 206 year: 1994 end-page: 213 article-title: Detection of common ‐thalassemia‐2 determinants by PCR publication-title: American Journal of Haematology – ident: e_1_2_6_3_1 doi: 10.1136/bmj.320.7247.1468 – ident: e_1_2_6_8_1 doi: 10.1182/blood.V98.1.250 – ident: e_1_2_6_5_1 doi: 10.1136/jms.5.1.31 – volume: 73 start-page: 1081 year: 1989 ident: e_1_2_6_6_1 article-title: A review of the molecular genetics of the human α‐globin gene cluster publication-title: British Journal of Haematology contributor: fullname: Higgs D.R. – ident: e_1_2_6_7_1 doi: 10.1046/j.1365-141.2003.04704.x – ident: e_1_2_6_2_1 doi: 10.1002/ajh.2830460309 – volume: 82 start-page: 105 year: 1992 ident: e_1_2_6_4_1 article-title: Rapid analysis of ‐α3·7 thalassaemia and α α α anti 3·7 triplication by enzymatic amplification analysis publication-title: British Journal of Haematology contributor: fullname: Dode C. – volume: 3 start-page: 1813 year: 1984 ident: e_1_2_6_9_1 article-title: The molecular basis of alpha‐thalassemia in Thailand publication-title: EMBO Journal doi: 10.1002/j.1460-2075.1984.tb02051.x contributor: fullname: Winichagoon P. |
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| SubjectTerms | alpha‐thalassaemia Alu repeats deletion India KOL |
| Title | A novel 33·3 kb deletion (‐ ‐KOL) in the alpha‐globin gene cluster: a brief report on deletional alpha‐thalassaemia in the heterogeneous eastern Indian population |
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