Gene mutation combination serving as marker of MRKH syndrome and application of gene mutation combination

Abstract

The invention discloses a gene mutation combination serving as a marker of the MRKH syndrome and application of the gene mutation combination, and relates to the field of biotechnology and medical diagnosis. The gene mutation combination is a group of pathogenic gene mutation sites related to the MRKH syndrome. According to the research of the invention, by whole exome sequencing, the following mutation sites on a gene PAX8 of a patient with the rare MRKH syndrome are found in the world for the first time: c.236C> G, c.156_157dupCG, c.25+1G> T, c.195delC, c.322C> T and c.542C> T; and experimental verification shows that the mutant gene PAX8 carrying the mutation sites can be used as the diagnosis marker of the MRKH syndrome, is used for diagnosing whether the patient suffers from the MRKH syndrome or not and carrying out pre-pregnancy early warning, and provides a brand-new thought for researching the pathogenesis of the MRKH syndrome.

Description

technical field [0001] The invention belongs to the field of biotechnology and medical diagnosis, and in particular relates to a group of pathogenic gene mutation sites related to MRKH syndrome, and the preparation of reagents or reagents for the diagnosis of MRKH syndrome by the pathogenic genes carrying these gene mutation sites application in the box. Background technique [0002] MRKH (Mayer-Rokitansky-Küster-Hauser) syndrome, also known as congenital absence of the vagina, is a structural defect of the female reproductive system. The clinical features of the patient are complete absence of the uterus and upper 2 / 3 segments For example (even if it is the primordial uterus), the reproductive and endocrine functions of the ovaries are normal, the development of secondary sexual characteristics is normal, the karyotype is 46, XX, and the incidence rate is about 1 / 4500-5000 newborn girls. MRKH syndrome can be divided into two types according to whether it is combined with a...

AI Technical Summary

Problems solved by technology

However, MRKH syndrome is a rare disease. Due to the small number of case samples, difficulty in collecting case samples, and the infertility of patients, families with good research value are very rare, and there is still a lack of possible pathogenic gene mutations for MRKH syndrome. Based on this, the present invention found the following mutation sites on the PAX8 gene for the first time by performing whole-exome sequencing analysis on 442 MRKH patients and 941 female controls: c.236C>G, c.156_157dupCG , c.25+1G>T, c.195delC, c.322C>T and c.542C>T. It has been verified that the above mutation sites will lead to the loss of the function of the protein corresponding to PAX8, which will lead to MRKH syndrome

Images