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Molecular diagnostic method and kit of genetic bone diseases

A technique of molecular diagnosis and heredity, applied in the field of molecular diagnosis methods and kits for hereditary bone diseases

Inactive Publication Date: 2018-09-25
SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are no diagnostic methods and related kits for hereditary bone diseases with practical clinical application significance

Method used

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  • Molecular diagnostic method and kit of genetic bone diseases
  • Molecular diagnostic method and kit of genetic bone diseases
  • Molecular diagnostic method and kit of genetic bone diseases

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Embodiment 1

[0033] 1. Research Methods

[0034] (1) Collection of samples from patients in families with hereditary bone diseases

[0035] Blood samples of 50 probands and family members of hereditary bone diseases have been collected for this project.

[0036] (2) Screening of clinical hereditary bone disease samples with known pathogenic mutations (Table 1)

[0037] Table 1 Samples of 12 hereditary bone diseases with known pathogenic gene mutations

[0038] #

diagnosis

Gene

known pathogenic mutation

Targeted high-throughput sequencing results

S01

syndactyly

GJA1

c.302G>T

c.302G>T

S02

congenital clubfoot

FLNB

c.4717G>T

c.4717G>T

S03

congenital contracture deformity

TNNI2

c.533T>G

c.533T>G

S04

flexion deformity of fingers

FBN2

c.3434G>A

c.3434G>A

S05

Polydactyly

GLI3

c.714T>A

c.714T>A

S06

Syndactyly

HOXD13

c.556C>T

c.556C>T

S07...

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Abstract

The invention relates to a molecular diagnostic method and kit of genetic bone diseases. The method includes using a capture probe aiming at 561 genetic bone disease related genes and applying a target gene high throughput parallel targeting sequencing method to determine the sequences of the corresponding genes of subjects. The kit includes the capture probe which aims at 561 genetic bone diseaserelated genes. The method has advantages of high throughput, high sensitivity and high singularity; the cost of analyzing pathogenic gene mutation of the genetic bone diseases can be rapidly reduced;and the method has practical clinical significance, is helpful for the drawing of genetic bone disease gene mutation spectrums and the explication of the molecular pathogenesis of the genetic bone diseases, and provides theoretical foundations of early accurate diagnosis, precision treatment, prenatal diagnosis and genetic counseling for the genetic bone diseases.

Description

technical field [0001] The invention relates to molecular diagnosis of diseases, in particular to a molecular diagnosis method and kit for hereditary bone diseases. Background technique [0002] Hereditary bone disease is one of the most common clinical birth defects. It is a large group of bone and cartilage dysplasia diseases with strong clinical and genetic heterogeneity. Among the top ten birth defects in my country, polydactyly (toe) deformity is included. (No. 2), clubshoofus (No. 5), syndactyly (toe) deformity (No. 7), shortened limbs (No. 9) and other hereditary bone diseases, which seriously affect the quality of life of patients. effective treatment. Therefore, research on the genetic causes and molecular mechanisms of hereditary bone diseases, as well as research on early diagnosis and prevention, has important theoretical and practical significance for reducing the birth defect rate in my country and improving the efficiency of diagnosis and treatment of hereditar...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 游国岭傅启华王志刚
Owner SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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