Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Table 4 PKD1 polymorphisms detected in Thai population

Polymorphism	Location	Nucleotide change	Amino acid change	Frequency (%)	Detection method	Presence in HGs^a
c.10078C>T	Exon 29	g.41677C>T	C3289C	16.4 (18/110)	BsmA I (+)	Yes
c.10120C>T	Exon 29	g.41719C>T	G3303G	4.5 (5/110)	Hph I (+)	Yes
c.10158G>A	Exon 30	g.41847G>A	S3316N	15.5 (17/110)	Bsp1286 I (-)	Yes
c.10318C>T	Exon 31	g.43666C>T	S3369S	0.9 (1/114)	Pvu II (-)	No
IVS41+20C>T	IVS41	g.49833C>T	-	1.0 (4/400)	ASA^b	No

^aAnalyzed from multiple alignment of PKD1-genomic DNA with 6 homologous genes or pseudogenes [17, 34]. ^bAllele specific amplification.

ISSN: 1471-2350