Human LPL gene, located on the short arm of chromosome 8, is composed of 10 exons and 9 introns spanning some 30 kb. Exons one through nine encode 475 amino acids, which contains a signal peptide of 27 amino acids.
Methods The mutations located in exons 2 12 and in parts of introns of G6PD gene were analyzed by amplification refractory mutation system(ARMS), natural and mis match primer PCR/restrict enzyme, polymerase chain reaction single strand conformation polymorphism(PCR SSCP) analysis and automatic DNA sequencing.
Methods Exon 1-9, some introns and 5' untranslated region of LPL were screened with PCR-SSCP and the PCR fragments of abnormal electrophoresis band were sequenced in a patient with hypertriglyceridemia.
For studying the relationship between the lipoprotein lipase gene and cardiovascular complications of NIDDM,the polymorphism of the 8th intron of lipoprotein lipase gene was determined with the PCR and RFLP methods,in 102 NIDDM patients and 62 normal people as control.
Methods PCR RFLP technique was used to determine the DNA polymorphism of the 6th and 8th intron of lipoprotein lipase gene in 216 patients with type 2 DM (type 2 DM group). The results were compared with 63 healthy subjects (control group).
[Results] The allele snp5-14 in the MGEA5 gene within the 10th intron was A/T,subjects carrying the T allele suffer an increased incidence of diabetic mellitus than those carrying the AA allele. The allele T frequency in the diabetic mellitus group was significantly higher than that in the normal control group(P<(0.01)).
Methods The genotypes at position 9606 in the 5th intron and position 14233 in the 12th intron of G-CSFR gene were determined by polymerase chain reaction-single strand conformation poly- morphism(PCR-SSCP)method in 144 patients with SLE and 489 ethnically matched controls.
Single nucleotide polymorphism (SNP) in adiponectin gene were found in Chinese Han of Jinan district. SNP45 was closely correlated with type 2 DM, and the frequency of T/T genotype in type 2 diabetics was significanly higher than those in obese subjects and normal controls ( both P＜0.01).
Objective:The aim of this study was to evaluate the association of C1217T polymorphism in osteoprotegerin (OPG) gene with Glucocorticoid-induced osteoporosis(GIO) in Chinese population.
Methods:The C1217T genotypes of OPG were determined by PCR-RFLP in 208 healthy persons(groupⅠ),168 non-GIO patients (group Ⅱ)and 104 patients with GIO(group Ⅲ).
The result indicated that the sequence was 1,813 bp (BamHI and SacI were introduced at the 5' and 3' end) including 7 extrons and 6 introns, coding 238 amino acids.
Studies on the statistical characteristics of EID show that there were 103, 848 genes, 478,484 introns, and 582,332 exons, with an average of 4.61 introns and 5.61 exons per gene.
Results of the statistical analysis on the data from nine model species showed that in eukaryotes, higher species do not necessarily have more introns or exons in a gene than lower species.
We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphicAlu insertion that occurs within the 8th intron of the tissue plasminogen activator gene (PLAT).
No nucleotide mutation in two important regions of the presumptive promoter for tr-kit mRNA was detected within the 16th intron of the mouse strains examined.
内含子
introns 
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