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Protein related to human hair and tooth development amd its coding gene

A technology related to protein and hair, applied in genetic engineering, plant genetic improvement, fermentation, etc., can solve problems such as tooth defects, abnormal tooth shape, and high heterogeneity

Inactive Publication Date: 2010-05-26
东营协和基因技术有限公司 +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0002] X-linked ectodermal dysplasia (hypohidrotic ectodermal dysplasia, XLHED) is a hereditary disease characterized by hypoplasia or morphological defects of sweat glands, hair and teeth, and other ectodermal-derived tissues. 10000, its typical clinical features are symptoms such as hypohidrosis or no sweat, thin hair or total baldness, tooth defects or abnormal tooth shape (Nature Genetics, 1996, 13: 409-416; Nature Genetics, 1998, 53: 205-209; Arch Dematol Res, 2003, 295:38-42), but there is high heterogeneity in phenotypic differences among individuals

Method used

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  • Protein related to human hair and tooth development amd its coding gene
  • Protein related to human hair and tooth development amd its coding gene
  • Protein related to human hair and tooth development amd its coding gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0026] Example 1. Obtaining of proteins related to hair and tooth development and their coding genes

[0027] 1. Sample selection

[0028] The research samples come from a large Mongolian family. The Mongolian people have long used grazing as their main way of life. Due to reasons such as geographical environment and folk customs, they have formed a relatively isolated population, resulting in diversity of genetic traits and special disease spectrum. The proband was discovered by the genetic clinic and diagnosed as congenitally missing teeth by the department of stomatology. On-the-spot investigations were conducted on 102 members of the family, and the genealogy chart of the family was drawn (see figure 1 ), fill in the ectodermal dysplasia syndrome-related symptom questionnaire and the informed consent form. Among them, 56 main members underwent detailed physical examinations (such as general conditions, B-ultrasound, electrocardiogram, skin, sweat glands, palmoplantar ke...

Embodiment 2

[0043] Example 2. Confirmation of co-segregation of EDA gene first exon 193C→G transversion and phenotype in the family

[0044] 1. Using the genomic DNA of 14 male patients as a template, under the guidance of forward primer: GTCGGCCGGGACCTCCTC and reverse primer: GCCGCCGCCCCTACTAGG, polymerase chain reaction was carried out according to the method of Example 1, and the PCR product was analyzed by the dideoxy terminal termination method Nucleotide sequence (Beijing Huada Zhongsheng Biotechnology Company) results showed that in the family (except the proband) all 13 male affected persons in the family (except the proband) had a guanine nucleotide (G) in the first exon 193, which was consistent The rate is 100%.

[0045] 2. Detection of 193 nucleotides in the first exon of the female EDA gene in the family

[0046] Perform polymerase chain reaction on the genomic DNA of the female in the family according to the method in step 1, and sequence the PCR product by the dideoxy term...

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Abstract

The present invention discloses one kind of protein related to growth of human air and teeth and its coding gene. The protein related to growth of human air and teeth is protein of EDA with place 65 amino acid from the amino end mutated from arginine into glycine. The protein related to growth of human air and teeth and its coding gene of the present invention provide essentiality and possibilityfor the genetic diagnosis of X-linked congenital tooth deficiency disease, such as in antemarital consultation, DNA based antenatal diagnosis, etc. and this can reach the aim of raising population quality.

Description

technical field [0001] The invention relates to a functional protein and its coding gene in the biological field, in particular to a protein related to human hair and tooth development and its coding gene. Background technique [0002] X-linked ectodermal dysplasia (hypohidrotic ectodermal dysplasia, XLHED) is a hereditary disease characterized by hypoplasia or morphological defects in sweat glands, hair and teeth, and other ectodermal-derived tissues. 10000, its typical clinical features are symptoms such as hypohidrosis or no sweat, thin hair or total baldness, tooth defect or abnormal tooth shape (Nature Genetics, 1996, 13: 409-416; Nature Genetics, 1998, 53: 205-209; Arch Dematol Res, 2003, 295:38-42), but there is high heterogeneity in phenotypic differences among individuals. The gene related to ectoderm dysplasia (anhydrite ectodermic dysphasia, EDA) has been cloned and located in the Xp12-13.1 region of the short arm of the X chromosome. family members. The gene c...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C07K14/435C07K14/47C12N15/12C12N15/63C12N1/20
Inventor 邱长春白海花
Owner 东营协和基因技术有限公司
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