Combined detection method and application of lymphangioleiomyomatosis

A leiomyoma and joint detection technology, applied in the field of joint detection of lymphangioleiomyomatosis, can solve problems such as unclear root causes
CN110885879BActive Publication Date: 2020-11-13GUANGZHOU KINGMED DIAGNOSTICS GRP CO LTD
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Patent Information

Authority / Receiving Office
CN Β· China
Patent Type
Patents(China)
Current Assignee / Owner
GUANGZHOU KINGMED DIAGNOSTICS GRP CO LTD
Publication Date
2020-11-13

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Abstract

The invention relates to a combined detection method for lymphangioleiomyomatosis and its application, and belongs to the technical field of gene detection. The method includes the following steps: liquid phase capture targeted sequencing: Panel design for the whole-exon coding regions of TSC1 and TSC2 genes highly related to LAM and mutant genes closely related to solid tumors, construction of gDNA library, and after hybridization capture, On-machine sequencing; sorting: analyze the above sequencing data by bioinformatics processing, if the TSC1 and TSC2 genes are detected negative, the chromosome chip analysis method is used for supplementary detection; if the single hit site is detected, the multiple ligation probe is used Amplification is used for supplementary testing; if loci with unclear somatic mutation and germline mutation origin are detected, Sanger test is used for supplementary testing. This method improves the detection rate of positive variants in LAM patients.
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Description

technical field

[0001] The invention relates to the technical field of gene detection, in particular to a combined detection method for lymphangioleiomyomatosis and its application. Background technique

[0002] Lymphangioleio-myomatosis (LAM) is a rare multisystem neoplastic disease, almost all of which occur in women, and is characterized by chronic progressive diffuse thin-walled cystic lesions in both lungs. Patients with LAM have mild early symptoms, usually with gradually worsening dyspnea and recurrent pneumothorax and chylothorax. About 60-70% of patients will develop pneumothorax at some stage, and about 30% of patients will develop chylothorax. Common extrapulmonary manifestations include renal angiomyolipoma, retroperitoneal lymphatic involvement, and pelvic lymph node involvement.

[0003] LAM can be divided into sporadic LAM (S-LAM) and tuberous sclerosis-associated LAM (TSC-LAM). The pathogenesis of LAM is still not very clear. At present, it is believed tha...

Claims

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