The diagnostic markers and application of mrkh syndrome

A syndrome and amplification reaction technology, applied in the field of diagnostic markers of MRKH syndrome, can solve the problems of lack of research on mutation sites

Active Publication Date: 2022-04-08
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Including WNT family genes (WNT4, WNT5A, WNT7A, WNT9B) and HOX family genes (HOXA7, HOXA9, HOXA10, HOXA11, HOXA13) that have been studied more, as well as LHX1, PBX1, EMX2 genes, etc. Study on Mutation Sites in Disease-causing Genes

Method used

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  • The diagnostic markers and application of mrkh syndrome
  • The diagnostic markers and application of mrkh syndrome
  • The diagnostic markers and application of mrkh syndrome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0048] Example Identification and Verification of Pathogenic Gene Mutation Sites

[0049] 1. Research population

[0050] Research cohort: The present invention recruited a total of 442 patients with MRKH syndrome from Peking Union Medical College Hospital and Shenzhen Luohu Hospital, including 196 cases from Peking Union Medical College Hospital, 246 cases from Shenzhen Luohu Hospital, and 330 cases of type I MRKH syndrome patients ( 74.7%), 112 (25.3%) patients with type II MRKH syndrome. Patients with MRKH syndrome were diagnosed by gynecological ultrasound, pelvic MRI, karyotyping and collected medical records. Each test patient signed an informed consent, and the ethics committees of Peking Union Medical College Hospital and Shenzhen Luohu Hospital approved the study.

[0051] Control group: A total of 941 healthy women were recruited as controls in the present invention, and all subjects signed the informed consent.

[0052] Validation cohort: A total of 150 mixed-eth...

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Abstract

The invention discloses a diagnostic marker of MRKH syndrome and application thereof. The diagnostic marker is a group of pathogenic genes related to MRKH syndrome carrying mutation sites. The research of the present invention utilizes the whole exome sequencing analysis to discover the following mutation sites on the PAX8 gene of patients with rare MRKH syndrome for the first time in the world: c.136G>A, c.266T>C, c. 619C>T, c.727C>G, the following mutation sites exist on the TBX6 gene: c.275_287dupTGGAGGAGGGCGG, c.621+1G>A. It has been verified by experiments that the genes carrying the above mutation sites can be used as diagnostic markers for MRKH syndrome, which can be used to diagnose whether a patient has MRKH syndrome, and provide a scientific basis for the next step of clinical early diagnosis of MRKH syndrome.

Description

technical field [0001] The invention belongs to the field of rare diseases of MRKH syndrome, in particular, relates to a group of diagnostic markers for MRKH syndrome and applications thereof. Background technique [0002] During embryonic development, in the undifferentiated stage of the embryo, both sexes have two sets of reproductive ducts: mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). In the sixth week of embryonic development, the mesonephric duct gradually degenerates due to the lack of androgens, the accessory mesonephric duct fully begins to develop, and the occurrence and evolution of the female reproductive duct begins. The lower segments on both sides of the pararenal canal will heal in the center to form the uterus and the upper 2 / 3 of the vagina; the lower 1 / 3 of the vagina will be formed by the vaginal plate formed by the hyperplasia of the sinus nodules on the posterior wall of the urogenital sinus. The vaginal plate starts o...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 朱兰陈娜吴南赵森田维杰
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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