Disease Markers / 2015 / Article / Tab 2

Research Article

Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population

Table 2

CFTR mutations among Palestinians in Gaza and West Bank.

c-notationp-notationExon/introndbSNP ## of patients Gaza# of patients West Bank Patient(s)

del exon2Exon 21124 (het), 43
c.223C>Tp.(Arg75*)Exon 3121908749113
c.254G>Ap.(Gly85Glu)Exon 375961395444 (het), 56, 57 (het), 58
c.1040G>Cp.(Arg347Pro)Exon 877932196133
c.1209+1G>AIntron 9 39750817612
c.1393−1G>AIntron 10397508200442, 47, 54, 55 (het)
c.1521_1523delCTTp.(Phe508del)Exon 111139939601151, 3, 9, 11, 17, 19, 22 (het), 23, 24 (het), 28 (het), 29, 46, 48, 49 (het), 50, 52
c.1585−1G>AIntron 1176713772226, 31
c.1624G>Tp.(Gly542*)Exon 12113993959128 (het)
c.2051_2052delAAinsGp.(Lys684Serfs*38)Exon 141219087992 8, 25
c.2089_2090insAp.(Arg697fs)Exon 14397508341122 (het)
c.2988+1Kbdel8.6Kb Exons 19, 20, 214110, 20, 21, 36, 49 (het)
c.3299A>Cp.(Gln1100Pro)Exon 20397508535157 (het)
c.3793G>A1p.(Gly1265Arg)Exon 23116
c.3808G>Ap.(Asp1270Asn)Exon 2311971167118 (het)
c.3846G>Ap.(Trp1282*)Exon 2377010898255 (het), 60
c.3909C>Gp.(Asn1303Lys)Exon 2480034486244 (het), 51
c.4251delAp.(Glu1417fs)Exon 2739750870616

1Previously undescribed mutation.
All mutations are homozygous except those indicated by (het).
In patients P4, P5, P7, P12, P14, P15, P27, P30, P32, P34, P35, P37, P38, P39, P40, P41, P45, P53, and P59 no mutation was detected.
In P18 only one mutation was detected.