PMID: 9164776

Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M
Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.
Pediatrics. 1997 Jun;99(6):819-24., [PubMed]
Sentences
No. Mutations Sentence Comment
47 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:47:125
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:47:114
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:47:107
status: NEW
view ABCC7 p.Ser549Asn details
Polyacrylamide gel electrophoresis of PCR-amplified DNA served to identify the DF508 mutation.14 Mutations S549N, R553X, and G551D were screened by PCR amplification of exon 11, followed by restriction enzyme digests that are diagnostic of each mutation. Login to comment
52 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:52:132
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:52:26
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:52:18
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:52:33
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:52:121
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:52:40
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:52:11
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:52:114
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:52:59
status: NEW
view ABCC7 p.Arg560Thr details
Polyacrylamide gel electrophoresis of PCR-amplified DNA served to identify the ⌬F508 mutation.14 Mutations S549N, R553X, and G551D were screened by PCR amplification of exon 11, followed by restriction enzyme digests that are diagnostic of each mutation. Login to comment
57 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:57:26
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:57:18
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:57:33
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:57:40
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:57:11
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:57:59
status: NEW
view ABCC7 p.Arg560Thr details
Mutations, G542X, W1282X, R117H, R553X, N1303K, 1717-1G3A, R560T, and 621ϩ1G3T were analyzed by the ARMS procedure using published primers and conditions.18 A total of 360 patients were studied by multimutation analysis (80% of the Wisconsin CF population). Login to comment
108 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:108:148
status: NEW
view ABCC7 p.Trp1282* details
Further, in populations that have large subpopulations with high frequencies of a particular mutation, for example, Ashkenazi Jews (DF508 (27%) and W1282X (51%)),9 inclusion of other mutations to the second tier screen may be warranted. Login to comment
113 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:113:155
status: NEW
view ABCC7 p.Trp1282* details
Further, in populations that have large subpopulations with high frequencies of a particular mutation, for example, Ashkenazi Jews (⌬F508 (27%) and W1282X (51%)),9 inclusion of other mutations to the second tier screen may be warranted. Login to comment
118 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:118:252
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:118:195
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:118:166
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:118:223
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:118:280
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:118:137
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:118:407
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:118:344
status: NEW
view ABCC7 p.Arg560Thr details
Tested) Frequency (%) Theoretical Cumulative Detectionߤ (%) Patients Missed in One Yearߥ DF508&#a7; 513/720 71.25 91.74 1.32 G542X 17/162 3.02 93.38 1.05 W1282X 7/102 1.97 94.36 0.90 R117H 6/101 1.71 95.14 0.77 R553X 11/197 1.61 95.82 0.66 G551D 9/195 1.33 96.35 0.58 N1303K 3/100 0.86 96.67 0.53 1717 2 1G 3 A 2/99 0.58 96.88 0.49 R560T 2/106 0.54 97.06 0.47 621 1 1G 3 T 3/163 0.53 97.25 0.44 S549N 0/196 0.0 97.25 0.44 * Chromosomes were analyzed on blood or cheek cell specimens obtained from 360 patients (80% of the total Wisconsin CF population), all of whom had a positive sweat test. Login to comment
123 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:123:262
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:123:205
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:123:176
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:123:233
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:123:290
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:123:147
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:123:423
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:123:354
status: NEW
view ABCC7 p.Arg560Thr details
Tested) Frequency (%) Theoretical Cumulative Detection† (%) Patients Missed in One Year‡ ⌬F508§ 513/720 71.25 91.74 1.32 G542X 17/162 3.02 93.38 1.05 W1282X 7/102 1.97 94.36 0.90 R117H 6/101 1.71 95.14 0.77 R553X 11/197 1.61 95.82 0.66 G551D 9/195 1.33 96.35 0.58 N1303K 3/100 0.86 96.67 0.53 1717 - 1G 3 A 2/99 0.58 96.88 0.49 R560T 2/106 0.54 97.06 0.47 621 ϩ 1G 3 T 3/163 0.53 97.25 0.44 S549N 0/196 0.0 97.25 0.44 * Chromosomes were analyzed on blood or cheek cell specimens obtained from 360 patients (80% of the total Wisconsin CF population), all of whom had a positive sweat test. Login to comment
135 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:135:157
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:135:146
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:135:139
status: NEW
view ABCC7 p.Gly542* details
They report results of adding DNA testing for the DF508 mutation, and Ranieri et al15 also investigated adding three other CFTR mutations (G542X, R553X, and G551D) to the screen. Login to comment
140 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:140:164
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:140:153
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:140:146
status: NEW
view ABCC7 p.Gly542* details
They report results of adding DNA testing for the ⌬F508 mutation, and Ranieri et al15 also investigated adding three other CFTR mutations (G542X, R553X, and G551D) to the screen. Login to comment
147 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:147:90
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:147:216
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 9164776:147:317
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:147:104
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:147:134
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 9164776:147:230
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9164776:147:256
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:147:119
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:147:76
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 9164776:147:282
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:147:351
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:147:269
status: NEW
view ABCC7 p.Arg560Thr details
DNA Analysis of Genotyped CF Patients in the US* n Percent DF508 12701 67.7 G542X 403 2.2 G551D 357 1.9 W1282X 240 1.3 N1303K 223 1.2 R553X 157 0.8 3849 1 10kbC 3 T 102 0.5 621 1 1G 3 T 147 0.8 1717 2 1G 3 A 101 0.5 R117H 101 0.5 R334W 36 0.2 DI507 42 0.2 R347P 37 0.2 R560T 23 0.1 R1162X 44 0.2 2789 1 5G 3 A 25 0.1 A455E 16 0.1 3120 1 IG 3 A 14 0.0 S549N 12 0.0 711 1 IG 3 T 9 0.0 Other 178 0.9 Unidentified 3814 20.3 Total 18782 99.7ߤ Patient Genotypes Allele 1/Allele 2 n % of Genotype DF508/DF508 4573 48.7 DF508/Known 1511 16.1 DF508/Unknown 2044 21.8 Known/unknown 310 3.3 Known/known 223 2.4 Unknown/unknown 730 7.8 Total 9391 100.0 *Data from Cystic Fibrosis Registry, 1995; Annual Report. Login to comment
152 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9164776:152:97
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9164776:152:235
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 9164776:152:349
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:152:111
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9164776:152:141
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 9164776:152:249
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9164776:152:282
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9164776:152:126
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9164776:152:83
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 9164776:152:308
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 9164776:152:389
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 9164776:152:295
status: NEW
view ABCC7 p.Arg560Thr details
DNA Analysis of Genotyped CF Patients in the US* n Percent ⌬F508 12701 67.7 G542X 403 2.2 G551D 357 1.9 W1282X 240 1.3 N1303K 223 1.2 R553X 157 0.8 3849 ϩ 10kbC 3 T 102 0.5 621 ϩ 1G 3 T 147 0.8 1717 - 1G 3 A 101 0.5 R117H 101 0.5 R334W 36 0.2 ⌬I507 42 0.2 R347P 37 0.2 R560T 23 0.1 R1162X 44 0.2 2789 ϩ 5G 3 A 25 0.1 A455E 16 0.1 3120 ϩ IG 3 A 14 0.0 S549N 12 0.0 711 ϩ IG 3 T 9 0.0 Other 178 0.9 Unidentified 3814 20.3 Total 18782 99.7† Patient Genotypes Allele 1/Allele 2 n % of Genotype ⌬F508/⌬F508 4573 48.7 ⌬F508/Known 1511 16.1 ⌬F508/Unknown 2044 21.8 Known/unknown 310 3.3 Known/known 223 2.4 Unknown/unknown 730 7.8 Total 9391 100.0 *Data from Cystic Fibrosis Registry, 1995; Annual Report. Login to comment
155 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:155:104
status: NEW
view ABCC7 p.Trp1282* details
For example, South Austra- lia15 has a very small Jewish population and, consequently, analysis for the W1282X mutation was not included in the DNA screen. Login to comment
160 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9164776:160:104
status: NEW
view ABCC7 p.Trp1282* details
For example, South Austra- lia15 has a very small Jewish population and, consequently, analysis for the W1282X mutation was not included in the DNA screen. Login to comment