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Diagnostic marker for MRKH syndrome and application thereof

A syndrome and gene technology, applied in the determination/testing of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., can solve the problems of lack of research on mutation sites

Active Publication Date: 2021-03-16
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • 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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  • Diagnostic marker for MRKH syndrome and application thereof
  • Diagnostic marker for MRKH syndrome and application thereof
  • Diagnostic marker for MRKH syndrome and application thereof

Examples

Experimental program
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Effect test

Embodiment

[0048] Example Identification and verification of pathogenic gene mutation sites

[0049] 1. Research population

[0050] Research cohort: the present invention has recruited 442 MRKH syndrome patients from Peking Union Medical College Hospital and Shenzhen Luohu Hospital altogether, wherein, from Peking Union Medical College Hospital 196 examples, from Shenzhen Luohu Hospital 246 examples, 330 examples of I type MRKH syndrome patients ( 74.7%), 112 cases (25.3%) of type II MRKH syndrome patients. A patient with MRKH syndrome was diagnosed by gynecological ultrasound, pelvic MRI, karyotype analysis, and collected medical records. Each patient tested signed an informed consent form, and the study was approved by the ethics committees of Peking Union Medical College Hospital and Shenzhen Luohu Hospital.

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

[0052] Validation cohort:...

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Abstract

The invention discloses a diagnostic marker for MRKH syndrome and application thereof. The diagnostic marker is a group of pathogenic genes which are related to the MRKH syndrome and carry mutation sites. According to the research of the invention, by utilizing whole exome sequencing analysis, the following mutation sites are found on a PAX8 gene of a rare patient with the MRKH syndrome in the world for the first time: c.136G more than A, c.266T more than C, c.619C more than T and c.727C more than G; and the following mutation sites are found on a TBX6 gene: c.275_287dupTGGAGGAGGGCGG and c.621+1G more than A. Experiments verify that the genes carrying the mutation sites can be used as the diagnostic marker for the MRKH syndrome and are used for diagnosing whether the patient suffers from the MRKH syndrome or not, so that a scientific basis is provided for further clinical early diagnosis of the MRKH syndrome.

Description

technical field [0001] The invention belongs to the field of rare diseases of MRKH syndrome, and specifically relates to a group of diagnostic markers of MRKH syndrome and applications thereof. Background technique [0002] During embryonic development, during the undifferentiated stage of the embryo, both sexes have two sets of reproductive tubes: the mesonephric duct (Wolfian duct) and the paramesonephric duct (Müllerian duct). In the 6th week of embryonic development, the mesonephric duct gradually degenerates due to the lack of androgen, the paramesonephric duct fully begins to develop, and the occurrence and evolution of the female reproductive tract begin. The upper and middle sections of the mesonephric duct will gradually differentiate to form the fallopian tube; The lower segments on both sides of the pararenal duct 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 sinus nodules on the poste...

Claims

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Application Information

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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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