ABCC7 p.Asp1312Gly
| ClinVar: |
c.3935A>G
,
p.Asp1312Gly
?
, not provided
|
| CF databases: |
c.3935A>G
,
p.Asp1312Gly
(CFTR1)
?
, This mutation was identified on one libanon CF chromosome
|
| Predicted by SNAP2: | A: D (66%), C: D (66%), E: D (59%), F: D (80%), G: D (71%), H: D (80%), I: D (75%), K: D (85%), L: D (80%), M: D (80%), N: D (63%), P: D (85%), Q: D (66%), R: D (80%), S: D (66%), T: D (71%), V: D (75%), W: D (85%), Y: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Single-cell high resolution melting analysis: A no... J Cyst Fibros. 2015 Oct 19. pii: S1569-1993(15)00217-9. doi: 10.1016/j.jcf.2015.09.009. Destouni A, Poulou M, Kakourou G, Vrettou C, Tzetis M, Traeger-Synodinos J, Kitsiou-Tzeli S
Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).
J Cyst Fibros. 2015 Oct 19. pii: S1569-1993(15)00217-9. doi: 10.1016/j.jcf.2015.09.009., [PMID:26493493]
Abstract [show]
BACKGROUND: Institutions offering CF-PGD face the challenge of developing and optimizing single cell genotyping protocols that should cover for the extremely heterogeneous CF mutation spectrum. Here we report the development and successful clinical application of a generic CF-PGD protocol to facilitate direct detection of any CFTR nucleotide variation(s) by HRMA and simultaneous confirmation of diagnosis through haplotype analysis. METHODS: A multiplex PCR was optimized supporting co-amplification of any CFTR exon-region, along with 6 closely linked STRs. Single cell genotypes were established through HRM analysis following melting of the 2nd round PCR products and were confirmed by STR haplotype analysis of the 1st PCR products. The protocol was validated pre-clinically, by testing 208 single lymphocytes, isolated from whole blood samples from 4 validation family trios. Fifteen PGD cycles were performed and 103 embryos were biopsied. RESULTS: In 15 clinical PGD cycles, genotypes were achieved in 88/93 (94.6%) embryo biopsy samples, of which 57/88 (64.8%) were deemed genetically suitable for embryo transfer. Amplification failed at all loci for 10/103 blastomeres biopsied from poor quality embryos. Six clinical pregnancies were achieved (2 twin, 4 singletons). PGD genotypes were confirmed following conventional amniocentesis or chorionic villus sampling in all achieved pregnancies. CONCLUSIONS: The single cell HRMA CF-PGD protocol described herein is a flexible, generic, low cost and robust genotyping method, which facilitates the analysis of any CFTR genotype combination. Single-cell HRMA can be beneficial to other clinical settings, for example the detection of single nucleotide variants in single cells derived from clinical tumor samples.
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No. Sentence Comment
101 PGD case no. Genotype combination (HGVS CFTR reference sequences NM000492.3 and NG016465.1) LSC exons (legacy nomenclature) (Montgomery et al., 2007) No. of blastomeres received for diagnosis No. of blastomeres amplified No. of blastomeres genotyped No. of unaffected blastomeres Pregnancy Confirmation of PGD result by PNDa 1 p.Arg334Gln and c.489+3ANG 7.2 and 4.2 5 4 4 2 No N/A 2 p.Phe508del and p.Phe508del 10 11 10 10 6 Yes Yes 3 p.Phe508del and c.489+1GNT 10 and 4.2 8 7 7 4 Yes Yes 4 p.Phe508del and p.Leu732X 10 and 13.3 10 8 8 5 Yes Yes 5 p.Phe508del and p.Asp1152His 10 and 18 4 3 3 3 Yes Yes 6 p.Phe508del and c.2051_2052delAAinsG 10 and 13.2 5 4 4 3 Yes Yes 7 p.Phe508del and p.Gly1069Arg 10 and 17bA1 9 9 9 4 Yes No (BP) 8 p.Phe508del and p.Gly542X 10 and 11 3 3 3 2 Yes Yes 9 p.Phe508del and c.3140-26ANG 10 and 17bA1 8 8 7 3 No N/A 10 p.Gly542X and p.Gly542X 11 2 2 2 1 No transfer 11 p.Glu826Lys and p.Phe508del 13.4 and 10 6 6 4 3 Yes Miscarried 12 p.D1312G and c.489+1GNT 21 and 4.2 11 9 9 8 Yes Miscarried 13 p.Glu279Asp and p.Phe508del 6b and 10 7 7 5 3 No N/A 14 p.Phe508del and p.Gly1069Arg 10 and 17bA1 9 8 8 5 Yes No (BP) 15 p.Glu822X and p.Gly1069Arg 13.4 and 17bA1 5 5 5 5 Yesb Miscarried Total 103 93 88 57 N/A: non-applicable, BP: biochemical pregnancy.
X
ABCC7 p.Asp1312Gly 26493493:101:968
status: NEW