An integrated gene detection method for autosomal dominant polycystic kidney disease (ADPKD) includes: Taking genomic nucleotides as templates, amplifying at least one long segment product with PKD1 long segment introduction group, amplifying short segment product of PKD1 with long segment introduction group, and denaturing high performance liquid chromatography The analysis results of PKD1 short fragment product and a normal sample were compared, so as to determine whether the PKD1 short fragment product has mutation.The above method effectively solves the problem that the 16th pair of chromosomes contains multiple highly similar but non functional PKD1 homologs (PKD1 homolog) and can not directly use polymerase chain reaction to scan the whole gene to detect gene variation, so as to achieve the purpose of economic, efficient and accurate screening of gene mutation outliers in Taiwan.一種自體顯性多囊性腎臟疾病(ADPKD)之整合式基因檢測方法，其包含：以基因組核苷酸為模板並使用PKD1長片段引子組擴增出至少一長片段產物；以長片段產物為模板並使用短片段引子組擴增出PKD1短片段產物；並以變性高效能液相層析(denaturing high performance liquid chromatography，DHPLC)分析，比較PKD1短片段產物與一正常檢體之分析結果，藉以判定該PKD1短片段產物是否具有具有變異。前述方法有效解決了第16對染色體中含有多個高度相似卻無功能性的PKD1同系物(PKD1-homolog)而無法直接利用聚合酶鏈鎖反應，對整段基因進行掃描以檢測基因變異之問題，達到經濟、有效率並準確的篩選出台灣族群基因變異位點的目的。
