Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia / 中华医学遗传学杂志

OBJECTIVE@#To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH).@*METHODS@#All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles.@*RESULTS@#Direct sequencing of PCR products revealed 8 LDLR variants in 7 patients, which included c.259T>G, c.513delC, c.530C>T, c.682G>T, c.763C>T, c.1187-10G>A, c.1948delG, and c.1730G>A, among which c.1948delG was novel. Four patients have carried heterozygous mutations, two carried homozygous mutations, and one carried compound heterozygous mutations. The patients with biallelic mutations presented with a more severe phenotype compared those carrying heterozygous mutations.@*CONCLUSION@#LDLR mutations were identified in 7 out of 9 patients with FH. Among the 8 identified LDLR mutations, c.1948delG was firstly reported. Above findings have expanded the mutation spectrum of LDLR gene.

Correlation of obstructive sleep apnea and silent brain infarction in elderly population / 国际脑血管病杂志

ObjectiveToinvestigatethecorrelationofobstructivesleepapnea(OSAS)andsilentbrain infarction (SBI) in elderly population. Methods A total of 1658 old subjects aged 60 in Beijing and Qingdao w ere screened. Polysomnography (PSG) w as used to conduct the diagnosis and grade of OSAS. MRI w as used to diagnose SBI. Results In al elderly subjects, the prevalences of OSAS and SBI w ere 32.1% and 22.4%. There w ere significant differences in the constituent ratio of the patients w ith hypertension and diabetes, as w el as apnea-hypopnea index (AHI), oxygen desaturation index (ODI), mean oxygen saturation and the low est oxygen saturation betw een the patients w ith OSAS of different severity and the control group. With the increased severity of OSAS, the incidence of SBI increased significantly. The incidences of patients w ith non-OSAS and mild, moderate and severe patients w ith OSAS w ere 13.2%, 30.5%, 43.5%, and 68.8%, respectively. There w as a significant difference betw een the 2 groups ( χ2 =13.365, P=0.004). Multivariable logistic regression analysis showed that hypertension (odds ratio [OR] 2.254, 95%confidence interval [CI] 1.325 to 8.347;P=0.002), diabetes melitus (OR 1.893, 95%CI1.471-8.432;P=0.003) and AHI ≥15 times/h (OR 3.106, 95%CI 1.583-12.571; P<0.001) were the independent risk factors for SBI in elderly population. Conclusions The incidence of OSAS w as higher in the elderly population aged over 60. The incidence of SBI in patients w ith OSAS w as significantly higher than that in patients w ith non-OSAS, and w ith the aggravation of OSAS, it show ed an increasing trend. Moderate to severe OSAS w as an independent risk factor for SBI in elderly population.