Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Table 4 Different mutation detection rates among different study groups with different diagnostic methods

Ethnicity	No. of patients ^a	Mutation detection rate	Method	Reference
Caucasian
American	202	89.1%	DHPLC, LR-PCR, DS	[1]
American	183	63.0%	LR-PCR, NGS, targeted re-sequencing	[12]
German	93	64.5%	LR-PCR, DS	[13]
German	277	64.6%	DHPLC, LR-PCR, DS	[14]
Czech	56	71.0%	Linkage analysis, LR-PCR, nested PCR with HRM, DS	[27]
French	700	89.9%	LR-PCR, DS, QFM PCR or Array-CGH	[3]
Asian
Chinese Hans	65	52.3%	DHPLC, LR-PCR, DS	[15]
Taiwanese	46	65.0%	LR-PCR, DS, and Real time Q-PCR or MLPA	[16]
Japanese	161	83.9%	LR-PCR, DS, and Q-PCR or MLPA	[17]
Korean	20	90.0%	LR-PCR, DS, and MLPA	This study

Abbreviations: DHPLC, denaturing high performance liquid chromatography; LR-PCR, long range-PCR; DS, direct sequencing; NGS, next-generation DNA sequencing; HRM, high resolution melting; QFM PCR, quantitative fluorescent multiplex PCR; Array-CGH, array-comparative genomic hybridization; Q-PCR, quantitative PCR; MLPA, multiplex ligation-dependent probe amplification.
^aNumber of unrelated patients in the study group.

ISSN: 1471-2350