The invention discloses a
gene library construction method of hereditary gynecologic tumors and a kit and relates to
mutation of 20 genes including ATM (ATM
serine /
threonine kinase), BARD1 (BRCA1 associated RING domain 1), BRCA1 (BRCA1,
DNA repair associated), BRCA2 (BRCA2,
DNA repair associated), BRIP1 (BRCA1 interacting
protein C-terminal
helicase 1), CDH1 (
cadherin 1), CHEK2 (checkpoint
kinase2), NBN (nibrin), PIK3CA (
phosphatidylinositol-4,5-bisphosphate 3-
kinase catalytic
subunit alpha), PALB2 (partner and localizer of BRCA2),
PTEN (
phosphatase and
tensin homolog), RAD51C (RAD51 paralogC), RAD51D (RAD51 paralog D), STK11 (
serine /
threonine kinase 11), TP53 (tumor
protein p53), MSH2 (mutS homolog 2), MLH1 (mutL homolog 1), MSH6 (mutS homolog 6), PMS2 (PMS1 homolog 2, mismatch repair
system component) and EPCAM (
epithelial cell adhesion molecule). Target regions comprise
exon regions of coding amino acids of the above 20 genes and 20 basic group regions at each of the upstream anddownstream of each
exon. In order to ensure that all the target regions are covered, a primer group necessary for a PCR (
Polymerase Chain Reaction) amplification process is separated into two independent primer groups for carrying out target region amplification respectively. Then a PCR product is subjected to sequencing
label connection,
library elution and reamplification and purification afteramplification to obtain a
library for sequencing. The library construction method disclosed by the invention is simple and rapid in steps; the library construction cost is effectively reduced; and thelibrary covers related genes of the hereditary gynecologic tumors. A high-
throughput sequencing instrument is combined and
related gene variation can be rapidly and accurately obtained; and the genelibrary construction method has important significance on the hereditary gynecologic tumors.