New gene mutation site causing congenital membranous cataract, detection method and application

A detection method and cataract technology, applied in biochemical equipment and methods, microbe measurement/testing, DNA/RNA fragments, etc., to achieve the effect of expanding understanding and expanding research directions
CN111607641AActive Publication Date: 2020-09-01FOURTH MILITARY MEDICAL UNIVERSITY
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Patent Information

Authority / Receiving Office
CN Β· China
Current Assignee / Owner
FOURTH MILITARY MEDICAL UNIVERSITY
Publication Date
2020-09-01

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Abstract

The invention relates to the field of disease-related mutant genes and discloses a novel gene mutation site causing congenital membranous cataract, a detection method and application. The invention specifically relates to gene mutation c.388C > T (p.R130C) of LIM2 and a genetic mode of dominant inheritance of autosomes of the gene discovered for the first time, and discloses a congenital membranous cataract virulence gene LIM2 mutation detection kit at the same time. The kit disclosed by the invention is used for detecting whether a patient has LIM2 gene c.388C > T mutation or not; therefore,an effective way for congenital cataract gene diagnosis, prenatal gene screening and genetic counseling is provided. The kit is beneficial to clinical prenatal diagnosis screening and common screeningof newborn LIM2 gene mutation, early surgery and training rehabilitation intervention are carried out on diagnosis congenital membranous cataract children, and irreversible lifelong hypopsia is reduced; and a basis is provided for screening after preventive fertility.
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Description

Technical field

[0001] The present invention relates to the field of gene detection, in particular to a new gene mutation site that causes congenital membranous cataract, detection method and application, Background technique

[0002] Congenital cataract (congenital cataract, CC) refers to the partial or complete opacity of the lens that exists before birth or gradually forms after birth and occurs within one year after birth. The global incidence of CC is 1-15 / 10,000, which is the second leading cause of blindness in children. CC due to abnormal lens metabolism in the embryonic stage causes its own transparency to decrease. Any genetic mutation that participates in or affects the development of the lens may lead to the occurrence of congenital cataracts.

[0003] Among more than 100 genetic abnormalities that have been found to cause congenital cataracts, 39 are associated with only manifestations that cause simple cataracts. Among these 39 gene abnormalities, more than half of ...

Claims

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