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Mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 and application thereof

A technology of pulmonary hypertension and disease-causing genes, applied in the field of human genetics and internal medicine and cardiovascular, to achieve the effect of reducing the birth of children

Inactive Publication Date: 2021-12-24
百世诺(北京)医疗科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] At present, there are still some families with HPAH that cannot be explained. Revealing the pathogenesis of pulmonary arterial hypertension related to BMPR2 gene at the molecular level can provide a theoretical basis for the clinical treatment of pulmonary arterial hypertension, and is of great significance for the early diagnosis of pulmonary arterial hypertension or assisting clinical judgment.

Method used

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  • Mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 and application thereof
  • Mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 and application thereof
  • Mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0018] Example 1 - Mutated Familial Inherited Pulmonary Hypertension Gene BMPR2

[0019] Mutated familial hereditary pulmonary hypertension pathogenic gene BMPR2, specific mutations are shown in Table 1 below:

[0020] Table 1 Mutations in familial hereditary pulmonary hypertension pathogenic gene BMPR2

[0021] Gene genomic location transcript number base change amino acid changes Reference Genome Version exon number BMPR2 chr2:203242231 NM_001204 c.36delC p.Trp13GlyfsTer34 GRCh37 / hg19 Exon1

[0022] (1) Specifically, at the genomic position chr2:203242198-chr2:203242247, the sequence of the wild-type BMPR2 gene is SEQ ID NO: 1: It is the pre-mutation base at genomic position chr2:203242231;

[0023] At genomic position chr2:203242198-chr2:203242246, the sequence of the mutated BMPR2 gene is SEQ ID NO: 2: ATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCTGGCTACCATGGAC;

[0024] That is, compared with the reference sequence of the wild-type BMP...

Embodiment 2

[0033] Example 2 - in vitro detection kit for the mutation of the family hereditary pulmonary hypertension pathogenic gene BMPR2

[0034] The mutated familial hereditary pulmonary hypertension pathogenic gene BMPR2 in vitro detection kit provided in this embodiment includes specific amplification primers for the target fragment, DNA polymerase and PCR buffer;

[0035] The specific primer information is as follows:

[0036] Upstream primer (BMPR2-E1F, SEQ ID NO:5): 5'CCTCTCATCAGCCATTTGTCC 3'; Downstream primer (BMPR2-E1R, SEQ ID NO:6): 5'AGTGGGGATAGGAAAATACACAA 3'; Length: 433bp.

[0037]This kit specifically uses the Sanger sequencing method, and the specific detection steps are: extract the DNA of the test subject according to the steps in Example 1, and then use the designed primer combination (SEQ ID NO: 5 and SEQ ID NO: 6) to carry out the BMPR2 gene Amplify to obtain the PCR product, use 1.5% agarose gel electrophoresis to detect the PCR product, select 1000bp Marker as ...

Embodiment 3-

[0039] Example 3 - Family Verification

[0040] Since HPAH is monogenic autosomal dominant inheritance, this example adopts the family linkage analysis method to verify the pathogenicity of the mutated familial hereditary pulmonary hypertension pathogenic gene BMPR2.

[0041] Specifically, three-generation members of a family with hereditary pulmonary hypertension were selected. The proband in this family was treated at Fuwai Hospital of the Chinese Academy of Medical Sciences and was clinically diagnosed with hereditary pulmonary hypertension.

[0042] On the premise that the proband (male, 9 years old) and his family voluntarily signed the informed consent, 5-10mL whole blood samples were sent, and a medical record database was established to record the proband's condition, family status and other information in detail. This verification has been approved by the institutional ethics committee.

[0043] Medical history of the proband:

[0044] Table 2 Medical history of the...

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Abstract

The invention relates to the technical field of human genetics and cardiovascular medicine, in particular to a mutant family heritable pulmonary arterial hypertension virulence gene BMPR2; compared with a reference sequence of wild type BMPR2 gene coding DNA, the nucleotide sequence of the mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 is SEQ ID NO:7; at a genome position chr2:203242231, a basic group C is deleted; and the reference genome version is GRCh37. The invention also relates to application of the mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 in preparation of a family heritable pulmonary arterial hypertension detection kit. The mutant BMPR2 gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; a carrier of the variant is detected; Guidance on healthy birth and healthy education and genetic counseling are provided for subjects; the birth of child patients is reduced; and the mutant family heritable pulmonary arterial hypertension virulence gene BMPR2 has important meanings for early diagnosis or auxiliary clinical judgment of pulmonary arterial hypertension.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, in particular to the mutation family hereditary pulmonary hypertension pathogenic gene BMPR2 and its application. Background technique [0002] Pulmonary arterial hypertension (PAH) is a clinical and pathophysiological syndrome characterized by changes in pulmonary vascular structure or function caused by a variety of heterogeneous diseases (causes) and different pathogenesis, resulting in elevated pulmonary vascular resistance and pulmonary artery pressure. , and then developed into right heart failure and even death. The incidence rate is low, but the course of the disease is dangerous and the prognosis is poor. The main clinical manifestations are: progressive increase in pulmonary artery pressure and resistance, increased right ventricular work compound, failure and death. [0003] "Chinese Guidelines for the Diagnosis and Treatment of ...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12N15/11C12Q1/6883
CPCC07K14/71C12Q1/6883C12Q2600/156
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)医疗科技有限公司
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