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Rare genetic disease mutant gene and application thereof

A technology for mutated genes and genetic diseases, applied in the field of mutated genes for rare genetic diseases and its applications, can solve the problems of GL-3 degradation blockage, α-GalA enzyme function loss, ischemia, etc., and achieve the effect of reducing the birth of children

Pending Publication Date: 2022-01-25
百世诺(北京)医学检验实验室有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Under normal circumstances, α-galactosidase A in human cell lysosomes can hydrolyze the α-galactose residues at the end of sphingolipids (mostly trihexosylceramide GL-3), while Fabry disease The mutation of the GLA gene encoding α-galactosidase A (α-Gal A) on the Xq22 chromosome of the patient results in partial or complete loss of α-Gal A enzyme function, resulting in blocked degradation of GL-3, and GL-3 in the heart, Accumulation in the lysosomes of nerves and blood vessels in various organs such as kidney, lung, eye, brain and skin, causing corresponding ischemia, infarction and dysfunction

Method used

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  • Rare genetic disease mutant gene and application thereof
  • Rare genetic disease mutant gene and application thereof
  • Rare genetic disease mutant gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1 - Mutated Genes for Rare Inherited Diseases

[0018] Rare genetic disease mutated genes, the specific mutations are shown in Table 1 below:

[0019] Table 1 Specific detection results of mutated genes in rare genetic diseases

[0020] Gene genomic location transcript number base change amino acid changes Reference Genome Version exon number GLA chrX:100656741 NM_000169 c.426C>A p.Cys142Ter GRCh37 / hg19 Exon3

[0021] (1) At genomic position chrX:100656692-chrX:100656791, the sequence of the wild-type GLA gene is:

[0022] is the base of the wild-type GLA gene at chrX:100656741 in the genome.

[0023] At the corresponding genome position, the sequence of the rare genetic disease mutation gene is:

[0024] is the base of the mutant gene GLA at chrX:100656741 in the genome.

[0025] (2) When the transcript number is NM_000169, the reference sequence of the DNA encoding the wild-type GLA gene is:

[0026] ...

Embodiment 2

[0032] Example 2-Detection kit for rare genetic disease mutation gene

[0033] Detection kits for mutation genes of rare genetic diseases, including Taq DNA polymerase, PCR buffer and primers, etc. The specific primers are as follows:

[0034] Upstream primer (GLA-E16F, SEQ ID NO: 1): 5'CTGCTACCTCACGATTGTGCT 3';

[0035] Downstream primer (GLA-E16R, SEQ ID NO:2): 5'ACCTGGACTCCCCTAA 3';

[0036] Length: 532bp.

[0037] The specific steps of using this kit to screen the mutated pathogenic gene GLA are as follows: extract the DNA of the test subject, and then use the designed primer combination (SEQ ID NO: 1 and SEQ ID NO: 2) to amplify the GLA gene to obtain For the PCR product, use 1.5% agarose gel electrophoresis to detect the PCR product, select 1000bp Marker as a reference, check and verify that the amplified product is the expected size, and finally sequence the PCR product. Obtained reference sequences from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database and compared...

Embodiment 3

[0038] Embodiment 3-family verification experiment

[0039] In this example, the method of family linkage analysis is used to verify the pathogenicity of mutant genes of rare genetic diseases.

[0040] Specifically, three generations of members of a family with familial Fabry disease were selected, and the proband (female, 57 years old) in this family was clinically diagnosed with Fabry disease.

[0041] On the premise that the proband and his family members voluntarily sign the informed consent, 5-10mL whole blood samples will be sent, and a medical record database will be established to record the proband's condition and family status in detail. This study has been approved by the institutional ethics committee.

[0042] Description of the clinical profile of the proband:

[0043] Table 3 Clinical profile of the proband

[0044]

[0045] The GLA gene of the proband and his family members was tested using the in vitro detection kit provided in Example 2, and the results...

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Abstract

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a rare genetic disease mutant gene; compared with a reference sequence of wild type GLA gene coding DNA, the nucleotide sequence is SEQ ID NO: 3; at a genome position chrX: 100656741, a base C is mutated into a base A; and the reference genome version is GRCh37. The invention also relates to application of the rare genetic disease mutant gene in preparation of a detection kit. The rare genetic disease mutant gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; and the detection of a carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and has great significance in early diagnosis of Fabry disease or auxiliary clinical judgment.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, in particular to mutation genes of rare genetic diseases and applications thereof. Background technique [0002] Fabry disease (Fabry disease) is a rare X-linked genetic disease. According to the "Guidelines for the diagnosis and treatment of rare diseases (2019 edition)", the exact incidence of Fabry disease is still unclear. According to foreign reports, the incidence rate among male newborns is 1 / 110000~1 / 40000. There is no population statistics on the incidence in China. It is reported that the prevalence rate is 0.12% among dialysis patients with end-stage renal disease. [0003] Fabry disease is a lysosomal storage disease. Under normal circumstances, α-galactosidase A in human cell lysosomes can hydrolyze the α-galactose residues at the end of sphingolipids (mostly trihexosylceramide GL-3), while Fabry disease The mutation of the GL...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 刘哲梁庆渊赵娜娜赖开生刘昕超高璇李方玉侯青惠汝太
Owner 百世诺(北京)医学检验实验室有限公司
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