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G Utermann

Publications and source records attributed to G Utermann.

203 records · Page 12Linked to original sources
PubMedDate not supplied

Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians.

Lipoprotein(a) (Lp(a)) represents a quantitative trait in human plasma associated with atherothrombotic disease. Large variation in the distribution of Lp(a) concentrations exists across populations which is at present unexplained. Sib-pair linkage analysis has suggested that the apo(a) gene on chromosome 6q27 is the major determinant of Lp(a) levels in Caucasians. We have here dissected the genetic architecture of the Lp(a) trait in Africans (Khoi San, South African Blacks) and Caucasians (Austrians) by family/sib-pair analysis. Heritability estimates ranged from h2 = 51% in Blacks, h2 = 61% in Khoi San, to h2 = 71% in Caucasians. Analysis by a variance components model also demonstrated that the proportion of the total phenotypic variance explained by genetic factors is smaller in Africans (65%) than in Caucasians (74%). Importantly the sib-pair analysis clearly identified the apo(a) gene as the major locus in Caucasians which explained the total genetic variance. In the African samples the apo(a) gene accounted for only half the genetic variance. Together with previous results from population studies our data indicate that genetic control of Lp(a) levels seems to be distinctly different between Africans and Caucasians. In the former genetic factors distinct from the apo(a) locus and also non-genetic factors may play a major role.

Black People↗
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Lp(a) phenotyping by immunoblotting with polyclonal and monoclonal antibodies.

A new method that allows rapid phenotyping of genetic Lp(a) glycoprotein types in large numbers of samples is described. The method is based on sodium dodecyl sulfate gel electrophoresis of reduced serum or plasma in horizontal slab gels followed by immunoblotting with polyclonal anti-Lp(a) lipoprotein or monoclonal anti-Lp(a) glycoprotein antibodies. Phenotyping of 194 unrelated, healthy subjects resulted in Lp(a) allele frequencies of Lp(a)B = 0.013, Lp(a)S1 = 0.032, Lp(a)S2 = 0.106, Lp(a)S3 = 0.096, Lp(a)S4 = 0.156, and Lp(a)O = 0.600, and confirmed the recently recognized association of Lp(a) glycoprotein phenotype with Lp(a) lipoprotein concentration. The new procedure is suitable for large-scale population, genetic, and epidemiologic studies and may be important for atherosclerotic risk assessment.

Adolescent↗
PubMedDate not supplied

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital malformations and a constitutional interstitial deletion of the short arm of chromosome 17, del(17) (11.2). The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self mutilation and sleep disturbances. The remarkable consistency of the main clinical features of the 59 patients documented so far permits the clinical diagnosis of this syndrome; a fact which is of importance, since many of the reported patients--including ours--were considered normal on earlier cytogenetic studies.

Abnormalities, Multiple↗