Application of Smoc2 gene and SNP marker thereof in multiple epiphyseal dysplasia

A stunted, smoc2c.1076t technology, applied in the biomedical field, can solve problems to be determined, etc.

Pending Publication Date: 2021-03-19
SHANDONG UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, there are still cases of multiple epiphyseal dysplasia without an identifiable genet

Method used

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  • Application of Smoc2 gene and SNP marker thereof in multiple epiphyseal dysplasia
  • Application of Smoc2 gene and SNP marker thereof in multiple epiphyseal dysplasia
  • Application of Smoc2 gene and SNP marker thereof in multiple epiphyseal dysplasia

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Embodiment

[0096] A pedigree with abnormal skeletal development was collected in Shandong. There were 38 members in four generations in the family, and the proband was IV-9. According to the analysis of the family map, there are patients in each generation of the family, and both men and women have the disease, which is consistent with the genetic characteristics of autosomal dominant genetic diseases ( figure 1 ).

[0097] The proband of the family was IV-9, who was normal at birth and had no obvious clinical symptoms. After the age of 2, the parents found that the development of motor ability was delayed. At the age of 4, knee joint varus, knee joint swelling, pain and other symptoms occurred. Radiographic findings showed swelling of the knee joint, uneven ossification of the epiphysis of the distal femur and proximal tibia in a "glacier fissure" shape, and irregular serrated surface of the epiphysis ( figure 2 ). The other patients in this family were all adults, and all had sympt...

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Abstract

The invention provides an application of a Smoc2 gene and an SNP marker thereof in multiple epiphyseal dysplasia, and relates to the technical field of biomedicine. According to the invention, a family with skeletal dysplasia is collected in Shandong, and final screening tests prove that SMOC2 c.1076T is greater than G; and p.L359R missense mutation is pathogenic mutation of a family with autosomal dominant multiple epiphyseal dysplasia, and the SMOC2 gene is a new pathogenic gene of the multiple epiphyseal dysplasia. A new pathogenic theoretical basis is provided for revealing a multiple epiphyseal dysplasia occurrence mechanism, and a foundation is laid for developing a disease early warning model suitable for people in China, so that the Smoc2 gene has good practical application value.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to the application of Smoc2 gene and its SNP marker in multiple epiphyseal dysplasia. Background technique [0002] The information disclosed in this background section is only intended to increase the understanding of the general background of the present invention, and is not necessarily taken as an acknowledgment or any form of suggestion that the information constitutes the prior art already known to those skilled in the art. [0003] Multiple Epiphyseal Dysplasia (MED) (OMIM132400) is an osteochondral dysplasia disease characterized clinically by mild to moderate short stature and early-onset osteoarthritis in knees, hips and other joints. The prevalence of the disease is about 1 / 20000-1 / 10000, and its inheritance and clinical manifestations are heterogeneous. The inheritance mode of the disease is mainly autosomal dominant inheritance, and some patient families are autoso...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/172
Inventor 刘奇迹李江夏李琳龙逢施宏彪郭少嫱马玉儿李鹏宇
Owner SHANDONG UNIV
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