Tags

Type your tag names separated by a space and hit enter

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
Rinsho Byori. 1996 May; 44(5):435-8.RB

Abstract

Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome.

Authors+Show Affiliations

Department of Clinical Pathology, Kitasato University, School of Medicine, Sagamihara, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

jpn

PubMed ID

8676562

Citation

Wada, C, et al. "[Nucleotide Sequences at Intron 6 and Exon 7 Junction of Fibroblast Growth Factor Receptor 2 and Rapid Mutational Analysis in Apert Syndrome]." Rinsho Byori. the Japanese Journal of Clinical Pathology, vol. 44, no. 5, 1996, pp. 435-8.
Wada C, Ishigaki M, Toyo-oka Y, et al. [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome]. Rinsho Byori. 1996;44(5):435-8.
Wada, C., Ishigaki, M., Toyo-oka, Y., Yamabe, H., Ohnuki, Y., Takada, F., Yamazaki, Y., & Ohtani, H. (1996). [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome]. Rinsho Byori. the Japanese Journal of Clinical Pathology, 44(5), 435-8.
Wada C, et al. [Nucleotide Sequences at Intron 6 and Exon 7 Junction of Fibroblast Growth Factor Receptor 2 and Rapid Mutational Analysis in Apert Syndrome]. Rinsho Byori. 1996;44(5):435-8. PubMed PMID: 8676562.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome]. AU - Wada,C, AU - Ishigaki,M, AU - Toyo-oka,Y, AU - Yamabe,H, AU - Ohnuki,Y, AU - Takada,F, AU - Yamazaki,Y, AU - Ohtani,H, PY - 1996/5/1/pubmed PY - 1996/5/1/medline PY - 1996/5/1/entrez SP - 435 EP - 8 JF - Rinsho byori. The Japanese journal of clinical pathology JO - Rinsho Byori VL - 44 IS - 5 N2 - Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome. SN - 0047-1860 UR - https://www.unboundmedicine.com/medline/citation/8676562/[Nucleotide_sequences_at_intron_6_and_exon_7_junction_of_fibroblast_growth_factor_receptor_2_and_rapid_mutational_analysis_in_Apert_syndrome]_ L2 - https://biocyc.org/gene?orgid=HUMAN&id=HS00881 DB - PRIME DP - Unbound Medicine ER -