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An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta


, : An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Human Molecular Genetics 2(8): 1155-1160

A strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain. The method involves polymerase chain reaction amplification of four overlapping segments covering the majority of the sequence coding for alpha 1(I) collagen. Four or five restriction endonuclease digestions are performed for each segment and digested samples subjected to single strand conformation polymorphism analysis. Mutations are finally defined by DNA sequence analysis. The application to the detection of mutations in four patients with lethal and non-lethal forms of osteogenesis imperfecta is described. In each of these patients, the heterozygous mutation identified resulted in substitution of different glycine residues with serines. In addition to these deleterious mutations, several novel silent variants were characterised. The strategy provides a rapid approach to screening for mutations and polymorphisms in alpha 1(I) collagen cDNA and is of general interest in scanning large regions of DNA for sequence changes.

US$29.90

PMID: 7691343


Other references

Abdel Aal, E.S.M.; Hucl, P.; Sosulski, F.W., 1999: Optimizing the bread formulation for soft spelt wheat. A spring-type hulled spelt wheat, registered in Canada in 1995 as "CDC Bavaria," has a large, medium-soft kernel with high protein content and flour yield. The gluten strength of the flour was intermediate, as indicated by sedimentation...

Krassilov, V.A.; Makulbekov, N.M.; Maslova, N.P., 1996: Ushia, a Palaeocene angiosperm of Nothofagus affinities from the lower Volga and western Kazakhstan. Leaf architecture and cuticular characters observed on mineral films impregnated under the cuticle (subcrustations) confirm a fagaceous affinity for the fossil genus Ushia dominant in the Palaeocene floras of the Lower Volga and western Kazakhstan...

Haussler, A.; Hajdu, P., 1958: Dissociation constant and solubility of rastinon, Hoechst; nomogram for general use for the calculation of dissociation constants. Archiv der Pharmazie und Berichte der Deutschen Pharmazeutischen Gesellschaft 291/63(10): 531-536

Cancrini, G., 1984: 25 years of "Parassitologia". General and analytical indexes to volumes I-XXV (1959-1983). Parassitologia 26(1-2): 1-217

Seidel, W., 1935: On a Metric Property of Fuchsian Groups. Proceedings of the National Academy of Sciences of the United States of America 21(7): 475-478

Buslov M.M.; Watanabe T.; Saphonova I.Y. (Safonova I.Y.); Iwata K.; Travin A.; Akiyama M., 2002: A Vendian-Cambrian island arc system of the Siberian Continent in Gorny Altai Russia, Central Asia. An extended Vendian-Cambrian island-arc system similar to the Izu-Bonin-Mariana type is described in the Gorny Altai terrane at the margin of the Siberian continent. Three different tectonic stages in the terrane are recognized. (1) A set of ensim...

Shields, L.B.E.; Nasraty, S.; Bell, A.D.; Vinayakan, A.N.; Gudibanda, R.S.; Hester, S.T.; Honaker, J.T., 2017: Primary care providers' prescribing practices of opioid controlled substances. Label="OBJECTIVE">Prescription opioid abuse poses a significant public health concern. House Bill 1 (HB1) was enacted in 2012 to address prescription drug abuse in Kentucky. The authors investigated the impact of HB1 on primary care p...

Maeshiro, A.; Wells, J.C., 1991: On the consistency of measures of agricultural performance in developing economies. This paper examines the consistency of two sets of data measuring agricultural output in 60 developing countries over time: the series on gross agricultural output, compiled by the US Department of Agriculture's Economic Research Service and...

Sweeney, M.O.; Cinquegrani, M.; Liang, C.S., 1987: Effects of oral labetalol on forearm and hepatic circulations in normotensive humans. The effects of single oral labetalol doses (100, 200, and 400 mg) on forearm and hepatic circulations were studied over a 2-hour period in 27 normotensive human subjects by using a double-blind, placebo-controlled design. Labetalol administration...

Manor, R.S.; Yassur, Y.; Ben-Sira, I., 1982: Pupil cycle time in noncompressive optic neuropathy. Pupil cycle time was found to correlate with the clinical findings in 24 patients with noncompressive optic nerve pathology, including 11 cases of multiple sclerosis. Furthermore, subclinical multiple sclerosis was detected by the prolongation of...