Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg3500→Gln mutation in hyperlipidemic Chinese

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

“…This indicates that conventional methods for diagnosis of FH, based mainly on lipid determinations and a family history of CAD, may not always allow an accurate diagnosis of the disease in all Chinese. A low-fat diet modulating the phenotype of Chi- nese patients in Taiwan with heterozygous familial defective apoB-100 has also been reported (20,21).…”

“…Type IIa patients had triglyceride values Ͻ 2.27 mmol/l, and type IIb patients had concentrations above this value. Patients with familial defective apolipoprotein B (apoB) were excluded by testing for the apoB-3500 mutation (20,21). In addition, a 12-yearold girl and a 40-year-old woman, who were clinically diagnosed with homozygous FH based on markedly increased concentrations of plasma LDL cholesterol (16.61 and 17.16 mmol/l, respectively) and the presence of skin and tendon xanthomas, were included in this study.…”

“…The procedures followed were in accordance with the current revision of the Helsinki Declaration of 1975. Blood samples from fasting subjects were drawn for DNA extraction and lipid measurements as described (20,21).…”

“…PCR products (3 l) were mixed with an equal volume of 95% formamide buffer for SSCP analysis (21). Fragments showing mobility shifts of single strands were sequenced directly using the ABI Prism Dye Terminator Kit and an ABI Prism TM 377 DNA Sequencer (Applied Biosystems).…”

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

“…13 PCR products were restricted to generate exon containing subfragments of approximately 100-300 bp for SSCP analysis. 13 Fragments showing mobility shifts of single strands and/or heteroduplex formation were sequenced directly using the ABI Prism Dye Terminator Kit (PE Applied Biosystems) and an ABI Prism TM 377 DNA Sequencer (PE Applied Biosystems). In patients 1362 and 1377, all exon containing fragments were sequenced to identify mutations.…”