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Gene chip for detecting stippled cartilage dysmorphism syndrome I type

A technology of gene chip and syndrome, which is applied in the field of gene chip detection of speckled cartilage dysmorphia syndrome type I, can solve the problem of low-cost type I gene mutation, and achieve good stability, large throughput and automatic detection and detection highly specific effect

Inactive Publication Date: 2013-01-23
THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there is no rapid, low-cost, high-throughput, and automated method for detecting the type I gene mutation

Method used

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  • Gene chip for detecting stippled cartilage dysmorphism syndrome I type
  • Gene chip for detecting stippled cartilage dysmorphism syndrome I type
  • Gene chip for detecting stippled cartilage dysmorphism syndrome I type

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 2

[0050] The gene chip for detection of speckled cartilage dysmorphia syndrome type I (CDPX1) of the present invention is used to detect and screen related populations, and the results show that the diagnostic chip has simple operation steps, high detection specificity, and good stability; repeated experiments High reliability; the time required for detection is short, and it can be completed within one working day from sample extraction to scanning results.

[0051] The results of the above examples show that the gene chip for detection of spotted cartilage dysmorphia syndrome type I (CDPX1) of the present invention has simple operation steps, high detection specificity, good stability, short time and low cost, and can be quickly and low-cost. , High-throughput, and automated detection of gene mutations in punctate cartilage dysmorphia syndrome type I (CDPX1).

[0052] SEQUENCE LISTING

[0053]

[0054] Obstetrics and Gynecology Hospital Affiliated t...

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Abstract

The invention belongs to the field of gene chips, and relates to a gene chip for detecting a stippled dysmorphism syndrome I type. The gene chip provided by the invention comprises a substrate and a probe, wherein the probe is immobilized on the substrate; and the probe is a nucleotide sequence represented by SEQ ID NO.1-50; and the substrate is one of a glass slide, a silicon wafer, a film and a high polymer material. The gene chip provided by the invention has the advantages of simple operation steps, high detection specificity, good stability, short time and low cost, and being capable of quickly and automatically detecting gene mutation of the stippled cartilage dysmorphism syndrome I type with low cost and high flux.

Description

technical field [0001] The invention relates to a gene chip in the field of biotechnology, more specifically, the invention relates to a gene chip for detecting spotted cartilage dysmorphia syndrome type I (CDPX1). Background technique [0002] Cartilage dysmorphia syndrome type I (CDPX1) is a congenital disorder of cartilage dysplasia caused by deletion or mutation of the ARSE gene located on Xp22. disease. The main clinical manifestations are symmetrical shortness of the upper and lower extremities, characteristic facial features, neurodevelopmental retardation, cataracts, fish-like changes in the skin, etc., with an incidence rate of 1 / 500,000 in the population. [0003] Mottled cartilage dysmorphia syndrome type I is an X-linked recessive inheritance. The key region is located in the region of about 3Mb between Xp22.33, PABX and DXS31, which is mainly caused by the mutation or deletion of the ARSE gene in this region. [0004] Prenatal diagnosis for parents carrying m...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 李笑天贺林郭奇桑秦胜营龚小会吴茜
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV