PMID: 9788722

Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Efremov GD
Molecular basis of cystic fibrosis in the Republic of Macedonia.
Clin Genet. 1998 Sep;54(3):203-9., [PubMed]
Sentences
No. Mutations Sentence Comment
40 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9788722:40:620
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9788722:40:262
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9788722:40:630
status: NEW
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ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 9788722:40:319
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 9788722:40:556
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:40:302
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:40:290
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 9788722:40:659
status: NEW
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ABCC7 p.Gln359Lys
X
ABCC7 p.Gln359Lys 9788722:40:579
status: NEW
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The screening procedures of 17 other known CF mutations included detection of mutations in the PCR products of positive controls and samples by: a) direct analysis on PAGE for A1507 and 1677delTA, simultaneously to AF508; b) hybridization with ASOs for mutation R117H (21), 1717-1GdA (22), G542X (22), N1303K (23), and W1316X (24), and c) restriction digestion `followed by agarose or polyacrylamide gel electrophoresis (exon 3 PCR product digested with HinfI for CUE, exon 4 with HinfI for 444delA, exon 5 with RsaI for 711 + 5G --*A,exon 7 with HhaI for R347H or with RsaI for Q359K/T360, exon 11 with HincII for both G551D and R553X, exon 19 with DdeI for R1162X or with HphI for 3849G+A, a 175 bp PCR fragment of exon 13 with HaeIII for 2556insAT) (4). Login to comment
65 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:65:15
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:65:5
status: NEW
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Only G542X and N1303K were found among the 17 more common mutations that, besides AF508, were screened by direct detection. Login to comment
68 ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 9788722:68:119
status: NEW
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Two of them were found by SSCP: 711+3A +G mutation, found in two Albanian chromosomes associated with haplotype A, and V1397E mutation found in a Macedonian chromosome. Login to comment
70 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:70:325
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:70:274
status: NEW
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Frequency of mutations identified in CF chromosomesfrom the Republic of Macedonia Mutation (location) Number of chromosomeswith mutation Ethnic group (fraction%) Method of detection XV-2clKM19 haplo- References (96) type AF508 (exon 10) 79 (47.6) All groups 12% PAGE BD (3) G542X (exon 11) 6 (3.6) All groups Dot blot B (22) N1303K (exon 21) 3 (1.8) MKa(2.8%) Dot blot B (23) 621t l G + T 2 (1.2) MK (1.9%) SSCP B (30) fintron 4) (intron 5) (exon 19) (exon 4) (intron 11) 711t3A-rG 2 (1.2) ALb (3.8%) SSCP A (31)c 384% +A 2 (1.2) MK (1.9%) SSCP C (32) 457TAT+G 1 (0.6) MK (0.9%) SSCP B (33) 1811+1G-.C l(0.6) MK (0.9%) DGGE 8 Hphl dig. Login to comment
71 ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 9788722:71:7
status: NEW
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C (19Y V1397E (exon 23) (0.6) MK (0.9%) SSCP ND (31)' Total 97 (58.4) a MK, Macedonian; AL, Albanian; novel mutation identified during this study 205 al. Table . Login to comment
72 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:72:169
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:72:297
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:72:157
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:72:283
status: NEW
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ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 9788722:72:307
status: NEW
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Clinical feaiures of the CF patients from Macedonia Genotype Number of CF patients (%) PI PS Shwachman scorea Age of onset GI- (mmljl) NDb AF508/AF508 AF508/G542X AF508/N1303K AF508/711+3A-.G AF508/711+W+G AF508/621+lG+T AF508/621+1G+T AF508/1811+1G-*C AF508/457TAT-*G AF508/3849G+A G542X/3849G+A N1303K/ND V1397E/ND AF508/ND NDiND Total 26 (31.3) 5 (6.0) 2 (2.4) 2 (2.4) 2 (2.4) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 1 (1.2) 13 (15.7) 27 (32.5) 83 (100.0) 26 5 2 1 1 1 1 1 1 1 1 1 7 4 1 15 7 63 13 25-85 30-60 38 84 82 35 78 80 83 50 82 83 I 30-60 20-90 ~~~~~ 1-6 months 1 month 3 months 1 month 1 month 2 months 2.5 years 2 months 2 months 2 months 1 month 6 years 3 weeks Variable Vanable ~ ~ ~~~ 80-210 116-166 180-200 80 120 170 156 240 150 98 190 65 65 65-2300 2 65-130 (ps) 58-230 (PO 5 65-130 (PS) 7 a Shown is the most recent Shwachman score. Login to comment
75 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 9788722:75:113
status: NEW
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ABCC7 p.Leu467Pro
X
ABCC7 p.Leu467Pro 9788722:75:157
status: NEW
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In a total of 23 CF and five undetermined chromosomes we characterized nine CFTR gene polymorphisms: a) by SSCP: R75Q (30), 405 +46GJT (34), 875+40A/G (35), L467P and 4002A/G (4), M470V (22), and the new one P324P (18); b) by CDGE: T966T (36) and 3041-92G/A (37). Login to comment
78 ABCC7 p.Leu467Pro
X
ABCC7 p.Leu467Pro 9788722:78:4
status: NEW
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The L467P polymorphism was found on three AF508 chromosomes. Login to comment
79 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:79:197
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:79:176
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:79:235
status: NEW
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Genotype-phenotype data Nine different genotypes were observed in 41/83 (49.4%) unrelated families: AF508/AF508 (n =26), AF508/457TAT-,G (n = l), AF508/621+1G+T (n = 2), AF508/G542X (n = 5), AF508/N1303K (n =2), AF508/38496-,A (n= I), G542X/ 384963 A (n = l), AF508/711 +3A G (n = 2), AF508/1811+1G-C (n = 1). Login to comment
80 ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 9788722:80:52
status: NEW
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In two families the genotypes were N1303/unknownand V1397E/unknown. Login to comment
98 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9788722:98:71
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9788722:98:26
status: NEW
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They include the 'oldest` G542X (found in different ethnic groups) and N1303K mutations (found only among Macedonians), and one additional mutation, 621 +lG+T, that is among the world`s most common CF alleles. Login to comment
99 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9788722:99:70
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9788722:99:77
status: NEW
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Mutations that are frequent in Bulgaria (1677delTA) (1l), and Serbia (G551D, R553X) (5, 10) were not found in this study. Login to comment
101 ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 9788722:101:40
status: NEW
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The mutations 711 +3A+G, 1811+IG-tC and V1397E were described for the first time in the literature, and to our knowledge they have not been found outside Macedonia. Login to comment