Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL)
Chronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50% of CLL patients, immunoglobulin (Ig) rearrangements are modified by somatic hypermutation (SHM), a process that represents a...
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Sociedade Brasileira de Genética
2008-01-01
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doaj-8fa049704c804be697fbe50b0434f3142020-11-25T01:18:07ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852008-01-0131364364810.1590/S1415-47572008000400007Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL)Beatriz Jatobá PimentelCláudio Gustavo StefanoffAline Santos MoreiraHéctor N. SeuánezIlana Renault ZalcbergChronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50% of CLL patients, immunoglobulin (Ig) rearrangements are modified by somatic hypermutation (SHM), a process that represents a reliable prognostic indicator of favourable progression. In this study, we investigated SHM in 37 Brazilian CLL patients and identified the preferential involvement of specific immunoglobulin gene families and segments through PCR-amplified fragments or subcloned fragments. Forty-one rearrangements were observed and 37 of them were functional. A 98% homology cut-off with germinal sequences showed 18 patients (48.7%) with SHM. Unmutated cases showed a poorer clinical outcome. V H3 was the most frequent V H family, followed by V H4. The V H4-39 segment was the most frequently used, mainly in unmutated cases, while the V H3 family was predominant in mutated cases. The D3 and J H4/J H6 families were the most frequently observed.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400007chronic lymphocytic leukaemiaimmunoglobulin rearrangementssomatic hypermutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Beatriz Jatobá Pimentel Cláudio Gustavo Stefanoff Aline Santos Moreira Héctor N. Seuánez Ilana Renault Zalcberg |
spellingShingle |
Beatriz Jatobá Pimentel Cláudio Gustavo Stefanoff Aline Santos Moreira Héctor N. Seuánez Ilana Renault Zalcberg Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) Genetics and Molecular Biology chronic lymphocytic leukaemia immunoglobulin rearrangements somatic hypermutation |
author_facet |
Beatriz Jatobá Pimentel Cláudio Gustavo Stefanoff Aline Santos Moreira Héctor N. Seuánez Ilana Renault Zalcberg |
author_sort |
Beatriz Jatobá Pimentel |
title |
Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) |
title_short |
Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) |
title_full |
Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) |
title_fullStr |
Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) |
title_full_unstemmed |
Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL) |
title_sort |
use of v h, d and j h immunoglobulin gene segments in brazilian patients with chronic lymphocytic leukaemia (cll) |
publisher |
Sociedade Brasileira de Genética |
series |
Genetics and Molecular Biology |
issn |
1415-4757 1678-4685 |
publishDate |
2008-01-01 |
description |
Chronic lymphocytic leukaemia (CLL) is a haematological malignancy for which reliable prognostic markers are needed in view of its clinical heterogeneity. In approximately 50% of CLL patients, immunoglobulin (Ig) rearrangements are modified by somatic hypermutation (SHM), a process that represents a reliable prognostic indicator of favourable progression. In this study, we investigated SHM in 37 Brazilian CLL patients and identified the preferential involvement of specific immunoglobulin gene families and segments through PCR-amplified fragments or subcloned fragments. Forty-one rearrangements were observed and 37 of them were functional. A 98% homology cut-off with germinal sequences showed 18 patients (48.7%) with SHM. Unmutated cases showed a poorer clinical outcome. V H3 was the most frequent V H family, followed by V H4. The V H4-39 segment was the most frequently used, mainly in unmutated cases, while the V H3 family was predominant in mutated cases. The D3 and J H4/J H6 families were the most frequently observed. |
topic |
chronic lymphocytic leukaemia immunoglobulin rearrangements somatic hypermutation |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400007 |
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