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Identification of DNA variant associated with adult type hypolactasia

An intestinal lactase, lactase technology, applied in the field of identifying DNA variants related to adult-type intestinal lactase deficiency, can solve the problem of not revealing persistent/non-persistent related DNA variants and the like

Inactive Publication Date: 2004-10-27
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

[0101] Example 1: Linkage and linkage disequilibrium analysis

[0102] Seven polymorphic microsatellite markers located between D2S114 and D2S2385 flanking the LPH gene on 2q21 were analyzed 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 were detected by the marker D2S114 (family B, IV3), thereby determining the centromeric boundary of the lactase persistence / non-persistence site; obligate recombination events were detected by the marker D2S2385 (family B, IV17) (Fig. 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 allele fr...

Embodiment 2

[0104] Example 2: Extended Haplotype Analysis

[0105] 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 (pH8.8), 15mM (NH 4 ) 2 SO 4 , 1.5mM MgCl 2 , 0.1% Tween 20, 0.01% gelatin and 0.25U Taq polymerase (Dynazyme, Finnzymes) for PCR. The 5' end of one of the primers consists of 32 P-γATP is radioactively labeled. The...

Embodiment 3

[0109] Example 3: Sequence analysis of adult-type intestinal lactase deficiency loci

[0110] 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 intron 9 of the MCM6 gene, it is ...

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Abstract

The present invention relates to a nucleic acid molecule comprising a 5' portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia wherein said nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequence of SEQ ID NO:1 is also depicted in the Figure 4 and comprised in the sequence as depicted in the Figure 8; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is also depicted in Figure 5 and comprised in the sequence as depicted in the figure 9; (c) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide / nucleic acid molecule has at a position corresponding to position 5'- 13910 from the LPH gene a cytosine residue; and (d) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide / nucleic acid molecule has at a position corresponding to position 5' -22018 from the LPH gene a guanine residue. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.

Description

technical field [0001] The present invention relates to a nucleic acid molecule comprising the 5' portion of the intestinal lactase-phlorizin hydrolase (LPH) gene that causes or indicates human-type intestinal lactase deficiency, the nucleic acid molecule being selected from the group consisting of: (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 Fig. 4 and is included in the sequence described in Fig. 8; (b) has or comprises 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 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 compatible 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 ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): A61K48/00A61K35/76A61K38/00A61P3/00A61P43/00C07H21/04C07K16/18C12N1/15C12N1/19C12N1/21C12N5/10C12N7/00C12N9/24C12N9/38C12N15/00C12N15/09C12Q1/34C12Q1/68C12Q1/70G01N33/53G01N33/566
CPCC12Y302/01108C12Q1/6883C12N9/2471A61K38/00A61K48/00C12Q2600/156C12N9/2402C12N9/2468A01K2217/05C12Y302/01062C12Y302/01023A61P1/14A61P3/00A61P43/00
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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