TY - JOUR AU - Pramanik, Sreemanta AU - Cui, Xiangfeng AU - Wang, Hui-Yun AU - Chimge, Nyam-Osor AU - Hu, Guohong AU - Shen, Li AU - Gao, Richeng AU - Li, Honghua PY - 2011 DA - 2011/01/27 TI - Segmental duplication as one of the driving forces underlying the diversity of the human immunoglobulin heavy chain variable gene region JO - BMC Genomics SP - 78 VL - 12 IS - 1 AB - Segmental duplication and deletion were implicated for a region containing the human immunoglobulin heavy chain variable (IGHV) gene segments, 1.9III/hv3005 (possible allelic variants of IGHV3-30) and hv3019b9 (a possible allelic variant of IGHV3-33). However, very little is known about the ranges of the duplication and the polymorphic region. This is mainly because of the difficulty associated with distinguishing between allelic and paralogous sequences in the IGHV region containing extensive repetitive sequences. Inability to separate the two parental haploid genomes in the subjects is another serious barrier. To address these issues, unique DNA sequence tags evenly distributed within and flanking the duplicated region implicated by the previous studies were selected. The selected tags in single sperm from six unrelated healthy donors were amplified by multiplex PCR followed by microarray detection. In this way, individual haplotypes of different parental origins in the sperm donors could be analyzed separately and precisely. The identified polymorphic region was further analyzed at the nucleotide sequence level using sequences from the three human genomic sequence assemblies in the database. SN - 1471-2164 UR - https://doi.org/10.1186/1471-2164-12-78 DO - 10.1186/1471-2164-12-78 ID - Pramanik2011 ER -