Marker for the diagnosis of mrkh syndrome and its application in the preparation of diagnostic kits

Abstract

The invention discloses a marker for MRKH syndrome diagnosis and its application in preparing a diagnostic kit. The diagnostic marker is a group of pathogenic gene mutation sites related to MRKH syndrome. The research of the present invention utilizes whole exome sequencing to discover for the first time the mutation site c.68G>T on the PAX8 gene and the mutation site c.367G>T on the BMP4 gene in patients with MRKH syndrome rare disease Mutation site c.‑132‑1G>A on BMP4 gene c.766C>T mutation site BMP7 gene mutation c.1036‑2A>G mutation site c.TBX6 gene .621+1G>A, mutation site c.976C>T in WNT9B gene. The invention provides key clues and research directions for further revealing the etiology and pathogenesis of MRKH syndrome.

Description

technical field [0001] The invention belongs to the fields of molecular biology and gene detection, and in particular relates to a group of markers for MRKH syndrome diagnosis and its application in the preparation of diagnostic kits. Background technique [0002] Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare female congenital deformity of the reproductive tract, which can lead to sexual dysfunction and incurable primary infertility in patients. At present, the etiology and pathogenesis of this syndrome are poorly understood. One case of this deformity occurs in every 4000-5000 female babies born, and it is one of the most common causes of primary amenorrhea. The typical clinical features of patients with MRKH syndrome are female congenital absence of the upper two-thirds of the uterus and vagina, normal karyotype 46, XX, and typical female secondary sexual characteristics (Morcel K, Camborieux L, Guerrier D.Mayer - Rokitansky-Küster-Hauser (MRKH) syndrome [J]. ...

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Problems solved by technology

[0004] Currently, studies to identify genetic variants associated with MRKH syndrome are still lacking

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