# Mannose-binding lectin gene sequence data in Kelantan population

**Authors:** Muhamad Aidil Zahidin, Noor Haslina Mohd Noor, Muhammad Farid Johan, Abu Dzarr Abdullah, Zefarina Zulkafli, Hisham Atan Edinur

PMC · DOI: 10.1038/s41597-024-03274-4 · 2024-04-30

## TL;DR

This study provides the first MBL gene sequence data from the Kelantan population in Malaysia, identifying six haplotypes and contributing to understanding immune-related genetic variations.

## Contribution

The study presents novel MBL gene sequencing data from the Kelantan population and identifies six MBL haplotypes for the first time in this region.

## Key findings

- Six MBL haplotypes (HYPA, HYPB, LYPB, LXPB, HXPA, and LXPA) were identified from sequencing data.
- The sequencing data (886 bp) were deposited in GenBank with accession numbers ON619541-ON619546.
- An evolutionary tree was constructed based on the haplotype sequences.

## 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.

## Linked entities

- **Genes:** MBL2 (mannose binding lectin 2) [NCBI Gene 4153]

## Full-text entities

- **Genes:** PRPF40A (pre-mRNA processing factor 40A) [NCBI Gene 55660] {aka FBP-11, FBP11, FLAF1, FNBP3, HIP-10, HIP10}, MBL2 (mannose binding lectin 2) [NCBI Gene 4153] {aka COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C}, SETD2 (SET domain containing 2, histone lysine methyltransferase) [NCBI Gene 29072] {aka HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A}
- **Diseases:** immunodeficiencies (MESH:D007153), MBL deficiency (MESH:C563602), autoimmune and infectious diseases (MESH:D003141)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11061297/full.md

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Source: https://tomesphere.com/paper/PMC11061297