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Identification of DNA variant associated with adult type hypolactasia

An intestinal lactase, adult-based technology for the identification of DNA variants associated with adult-type intestinal lactase deficiency at low cost

Inactive Publication Date: 2014-09-10
NAT PUBLIC HEALTH INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Thus, assays of the coding and promoter regions of the LPH gene in adults did not reveal DNA variants associated with persistence / non-persistence of lactase, nor evidence from splicing variants or mRNA editing variants associated with this trait 7-8

Method used

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  • Identification of DNA variant associated with adult type hypolactasia
  • Identification of DNA variant associated with adult type hypolactasia
  • Identification of DNA variant associated with adult type hypolactasia

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0102] Example 1: Linkage and linkage disequilibrium analysis

[0103] Analysis of seven polymorphic microsatellite markers located between D2S114 and D2S2385 flanking the LPH gene on 2q21 in nine extended Finnish intestinal lactase deficiency families ( figure 1 ). Significant evidence of linkage to markers D2S314, D2S442, D2S2196 and D2S1334 was found, with the maximum log odds score value obtained for the D2S2196 marker being 7.67 at θ=0 (Table 1). Obligate recombination events are detected by the marker D2S114 (family B, IV3), thereby determining the centromeric boundary of the lactase persistence / non-persistence site; obligate recombination events are detected by the marker D2S2385 (family B, IV17) ( figure 1 , Table 1), so as to determine the telomere boundary of this site. To pinpoint this critical region, nine additional polymorphic markers were analyzed (Table 1). Based on the detected linkage, the linkage disequilibrium (LD) of the region is monitored with allel...

Embodiment 2

[0105] Example 2: Extended Haplotype Analysis

[0106] In the first stage, ten highly polymorphic microsatellite markers flanking the LPH gene on 2q21 were analyzed as described elsewhere 40，55 . Briefly, using the following gene distances, the analysis from the Généthon ResourceCenter 55 Ten highly polymorphic microsatellite markers on 2q near the lactase gene: cen-D2S114-1cM-D2S1334-0cM-D2S2196-0cM-D2S442-2cM-D2S314-2cM-D2S2385-1cM-D2S2288-1cM-D2S397- 1cM-D2S150-1cM-D2S132. The sequence of most of the above markers is mainly obtained from chromosome 2 provided by the Généthon map (Chumakov et al., 1995 56 ) obtained from the physical YAC contigs. In a total volume of 15 μl containing 12ng template DNA, 5pmol primers, 0.2mM each nucleotide, 20mM TrisHCL (pH 8.8), 15mM (NH 4 ) 2 SO 4 , 1.5mM MgCl 2 , 0.1% Tween 20, 0.01% gelatin and 0.25 U Taq polymerase (Dynazyme, Finnzymes) for PCR. The 5' end of one of the primers consists of 32 P-γATP is radioactively labeled. T...

Embodiment 3

[0110] Example 3: Sequence analysis of adult-type intestinal lactase deficiency loci

[0111] A 47 kb region between markers LPH1 and AC3 was amplified and sequenced in overlapping PCR fragments of genomic DNA from some members of nine intestinal lactase-deficient families. This region includes the 36 kb minichromosome maintenance (MCM6) gene covering the critical 47 kb region 18 ( figure 2 ). Except for a total of 52 variants, no variations were detected in the coding region of the MCM6 gene; 43 SNPs and 9 deletion / insertion polymorphisms were identified in this critical 47 kb region (Table 2). Only two variants (C / T -13910 and G / A -22018 ) was associated with the lactase persistence / non-persistence trait in the Finnish family (Tables 2 and 3). First related variant C / T -13910 Within the intron 13 of the MCM6 gene, it is located at the -13910 site away from the first ATG codon of the LPH gene. The second related variant G / A -22018 Within the intron 9 of the MCM6 gen...

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Abstract

The present invention relates to a nucleic acid molecule that causes or indicates human-type intestinal lactase deficiency and comprises the 5' portion of the intestinal lactase-phlorizin hydrolase (LPH) gene, the nucleic acid molecule being selected from the group consisting of: (a) having or comprising SEQ The nucleic acid molecule of the nucleic acid sequence of ID NO:1, the sequence of SEQ ID NO:1 is also described in Figure 4 and is included in the sequence described in Figure 8; (b) has or comprises the nucleic acid of the nucleic acid sequence of SEQ ID NO:2 Molecule, the sequence of SEQ ID NO: 2 is also described in Figure 5 and is included in the sequence described in Figure 9; (c) a nucleic acid molecule of at least 20 nucleotides, the complementary strand of which is under stringent conditions with (a ) or (b) nucleic acid molecule hybridization, wherein said polynucleotide / nucleic acid molecule has a cytosine residue at a position corresponding to the 5'-13910 position of the LPH gene; and (d) at least 20 nucleosides A nucleic acid molecule of acid, the complementary strand of the nucleic acid molecule hybridizes with the nucleic acid molecule of (a) or (b) under stringent conditions, wherein said polynucleotide / nucleic acid molecule is at the 5'-22018 site corresponding to the LPH gene There is a guanine residue in the position. The present invention also relates to a method for testing the presence or susceptibility of human-type intestinal lactase deficiency based on the analysis of the SNPs contained in the above-mentioned nucleic acid molecules. Furthermore, the present invention relates to diagnostic compositions and kits for detecting the presence or susceptibility to human-type intestinal lactase deficiency.

Description

technical field [0001] The present invention relates to a nucleic acid molecule that causes or indicates human-type intestinal lactase deficiency and comprises the 5' portion of the intestinal lactase-phlorizin hydrolase (LPH) gene, the nucleic acid molecule being selected from: (a) having or comprising SEQ ID The nucleic acid molecule of the nucleic acid sequence of NO: 1, the sequence of SEQ ID NO: 1 is also described in Figure 4 and included in Figure 8 In the described sequence; (b) have or comprise the nucleic acid molecule of the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO: 2 is also described in Figure 5 and included in Figure 9 In the described sequence; (c) a nucleic acid molecule of at least 20 nucleotides, the complementary strand of the nucleic acid molecule hybridizes with the nucleic acid molecule of (a) or (b) under stringent conditions, wherein said polynucleotide / nucleic acid The molecule has a cytosine residue at a position correspo...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/00A61K48/00A61K35/76A61K38/00A61P3/00A61P43/00C07H21/04C07K16/18C12N1/15C12N1/19C12N1/21C12N5/10C12N7/00C12N9/24C12N9/38C12N15/09C12Q1/34C12Q1/68C12Q1/70G01N33/53G01N33/566
CPCA01K2217/05A61K38/00A61K48/00A61P1/14A61P3/00A61P43/00C12N9/2402C12N9/2468C12N9/2471C12Q1/6883C12Q2600/156C12Y302/01023C12Y302/01062C12Y302/01108
Inventor 莱纳·佩尔托宁纳比尔·埃纳塔伊尔马·耶尔韦莱蒂莫·萨希埃尔基·萨维拉赫蒂约瑟夫·特维利格
Owner NAT PUBLIC HEALTH INST
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