Biomedical Engineering Reference
In-Depth Information
cartridge to the system, and flush the cartridge with 75% ACN for 15 min.
Remember to equilibrate the cartridge with 50% A and 50% B at the appropri-
ate flow rates for 30 min.
13.
Standard procedures for operating a DHPLC instrument for mutation detection
(e.g., normal ranges for the critical parameters of the mutation standards) have
been published ( 14 ) .
14.
DHPLC can separate wild-type homoduplexes from mutant homoduplexes for
certain mutations ( Fig. 6 ).
References
1. Oefner, P. J. and Huber, C.G. (2002) A decade of high-resolution liquid chroma-
tography of nucleic acids on styrene-divinylbenzene copolymers. J. Chromatogr.
B. Analyt. Technol. Biomed. Life Sci. 782, 27-55.
2. Lam, C. W., Sin, S.Y., Lau, E., et al. (2000) Prenatal diagnosis of glycogen stor-
age disease type 1b using denaturing high-performance liquid chromatography.
Prenat. Diag. 20, 765-768.
3. Lam, C. W., Yeung, W. L., Ko, C. H., et al. (2000) Spectrum of mutations in the
MECP2 gene in patients with infantile autism and Rett syndrome. J. Med. Genet.
37, e41.
4. Lam, C. W., Hui, K. N., Poon, P. M. K., et al. (2001) Novel splicing mutation of
the PPOX gene (IVS10+1G>A) detected by denaturing high-performance liquid
chromatography. Clin. Chim. Acta. 305, 197-200.
5. Lam, C. W., Poon, P. M. K., Tong, S. F., et al. (2001) Novel mutation and poly-
morphisms of the HMBS gene detected by denaturing HPLC. Clin. Chem. 47,
343-346.
6. Lam, C. W., Ko, C. H., Poon, P. M. K., and Tong, S. F. (2001) Two novel CLN2
gene mutations in a Chinese patient with classical late-infantile neuronal ceroid
lipofuscinosis. Am. J. Med. Genet. 99, 161-163.
7. Lam, C. W. (2002) First application of denaturing high-performance liquid chro-
matography (DHPLC) for prenatal diagnosis of genetic disease. Prenat. Diagn.
22, 79-80.
8. Lam, C. W., Li, C. K., Lai, C. K., et al. (2002) DNA-based diagnosis of isolated
sulphite oxidase deficiency by denaturing high-performance liquid chromatogra-
phy. Mol. Genet. Metab. 75, 91-95.
9. Lam, C. W., Leung, C. Y., Lee, K. C., et al. (2002) Novel mutations in the
PATCHED gene in basal cell nevus syndrome. Mol. Genet. Metab. 76, 57-61.
10. Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J. F., and Van Schaftingen, E.
(1997) Sequence of a putative glucose-6-phosphatase translocase, mutated in gly-
cogen storage disease type Ib. FEBS Lett. 419, 235-238.
11. Ihara, K, Kuromaru, R, and Hara, T. (1998) Genomic structure of the human glu-
cose 6-phosphate translocase gene and novel mutations in the gene of a Japanese
patient with glycogen storage disease type Ib. Hum. Genet. 103, 493-496.
12. Lam, C. W., Tong, S. F., Lam, Y. Y., Chan, B. Y., Ma, C. H., and Lim, P. L.(1999)
Identification of a novel missense mutation (G149E) in glucose-6-phosphate
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