PDF(Pubmed)
Abstract：
The human mannose-binding lectin (MBL) gene encodes a polymorphic protein that plays a crucial role in the innate immune response. Human MBL deficiency is associated with immunodeficiencies, and its variants have been linked to autoimmune and infectious diseases. Despite this significance, gene studies concerning MBL sequencing are uncommon in Malaysia. Therefore, we aimed to preliminary described the human MBL sequencing dataset based on the Kelantan population. Blood samples were collected from 30 unrelated individuals and underwent DNA extraction, genotyping, and sequencing. The sequencing data generated 886 bp, which were deposited in GenBank (ON619541-ON619546). Allelic variants were identified and translated into six MBL haplotypes: HYPA, HYPB, LYPB, LXPB, HXPA, and LXPA. An evolutionary tree was constructed using the haplotype sequences. These findings contribute to the expansion of MBL information within the country, providing a valuable baseline for future research exploring the association between the gene and targeted diseases.
摘要：
人甘露糖结合凝集素(MBL)基因编码在先天免疫应答中起关键作用的多态蛋白。人类MBL缺乏与免疫缺陷有关，其变体与自身免疫和传染病有关。尽管有这种意义,有关MBL测序的基因研究在马来西亚并不常见.因此,我们旨在初步描述基于吉兰丹人群的人类MBL测序数据集。从30个无关的个体收集血样，并进行DNA提取，基因分型，和测序。测序数据产生886bp,存入GenBank(ON619541-ON619546)。等位基因变体被鉴定并翻译成六个MBL单倍型：HYPA，HYPB,LYPB,LXPB,HXPA,LXPA使用单倍型序列构建进化树。这些发现有助于在国内扩大MBL信息，为探索基因与目标疾病之间的关联提供了有价值的基线。
