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1.
Polymorphisms of apolipoproteins A-IV and E in a Turkish population living in Germany 总被引:2,自引:0,他引:2
E. Malle K. P. Pfeiffer K. Dugi C. Pfeiffer M. Glaum M. Oezcueruemez H. U. Kloer A. Steinmetz 《Human genetics》1996,98(3):285-290
Human apolipoproteins (apo) E and apo A-IV are polymorphic with significantly different allele frequencies among different
ethnic groups. Whereas the variation at the apo E gene locus affects plasma cholesterol levels in all populations studied
so far and is associated with longevity in Caucasians, the influence of the common apo A-IV polymorphism on plasma lipoproteins
has not been unanimously accepted. We have therefore determined the common apo E and apo A-IV polymorphisms by isoelectric
focusing, calculated the respective allele frequencies and studied their effects on plasma lipoproteins in a random sample
of 240 nonrelated Turkish subjects (141 males, 99 females) living in Germany and originating from central and eastern Anatolia.
When compared with the German population and other Caucasians in Europe a prominence of the apo ɛ3 allele frequency (0.885)
was accompanied by a decrease in the frequencies of both the apo ɛ2 allele (0.048) and the apo ɛ4 allele (0.067). Thus, the
Turkish population studied here clustered with populations mainly from southern Europe and Japan, which have low ɛ2 and ɛ4
allele frequencies. Also, the frequency of the A-IV-1 allele was higher (0.967) and that of the A-IV-2 allele lower (0.033)
in the Turkish subjects studied than in other populations. At an average level of total cholesterol of 194.5 ± 45 mg/dl, no
significant influence of the A-IV alleles on plasma lipoproteins was seen. However, apo E and apo B differed significantly
between apo E phenotypes, with high levels of apo E and low levels of cholesterol and apo B in carriers of the ɛ2 allele,
and vice versa for the ɛ4 allele. The average cholesterol excess for the ɛ2 allele was –7.95 mg/dl, for the ɛ3 allele, –1.34,
and for the ɛ4 allele, +14.15 mg/dl. Thus, despite the unusual frequency distribution of the apo E alleles, their effects
on plasma lipoproteins are within the range reported for other populations in Europe.
Received: 10 April 1995 / Revised: 25 March 1996 相似文献
2.
The genes encoding apolipoproteins (apos) A-I, B, C-III and E as well as that encoding the angiotensin converting enyzme (ACE) have been proposed as candidate genes for coronary heart disease (CHD). We determined the common polymorphisms of the apo genes, previously found to influence serum lipid levels at the population level, and the insertion/deletion polymorphism of the ACE gene, recently reported to reflect the risk of myocardial infarction, in 82 very young (mean, 41 years) North Karelian Finns with symptomatic CHD and 50 controls of similar age. Patients with familial hypercholesterolemia had been excluded from this material. None of the polymorphisms examined, including the apo A-I promoter MspI, apo C-III SstI and apo B XbaI restriction fragment polymorphisms, a common variation of apo E (2, 3 and 4 alleles) and an ACE insertion/deletion (I/D) polymorphism, was significantly associated with the risk of premature CHD. Patients with CHD had a higher mean serum LDL cholesterol/HDL cholesterol ratio than controls (3.15±1.30 vs 2.72±0.98, P < 0.05), but no significant associations between the common apo gene polymorphisms and serum lipid levels were disclosed in either group. It is possible that other genetic loci than those proposed to be associated with accelerated atherosclerosis may be more important as risk factors of symptomatic CHD at the age of 40 years. 相似文献
3.
L. U. Gerdes Christian Gerdes Peter Steen Hansen Ib Christian Klausen Ole Faergeman Jørn Dyerberg 《Human genetics》1996,98(5):546-550
Apolipoprotein E (apoE) genotypes were determined in Inuit population samples from Nuuk on the south-west coast of Greenland
(n = 100) and from the Ammassalik region on the south-east coast (n = 78). The ɛ2 allele was absent in the latter sample, and the ɛ4 allele frequency was relatively high, about 23%. As in most
other populations, mean plasma lipoprotein-related variables, except high-density lipoprotein (HDL) cholesterol, were higher
in both Inuit men and women with ɛ4 than in ɛ3ɛ3 genotypes (P < 0.05 for triglycerides in men, and for non-HDL cholesterol and apolipoprotein B in women). The estimated apoE allele frequencies
were combined with data from other studies of aboriginal peoples to outline a world map of apoE allele frequencies. A recent
study of non-human primates suggests that ɛ4, and not ɛ3, is the ancestral allele in humans and we have used the map to generate
additional hypotheses regarding the history of the apoE polymorphism in humans.
Received: 30 November 1995 / Revised: 15 June 1996 相似文献
4.
Juhász A Rimanóczy A Boda K Vincze G Szlávik G Zana M Bjelik A Pákáski M Bódi N Palotás A Janka Z Kálmán J 《Neurochemical research》2005,30(8):943-948
Multiple genetic and environmental factors regulate the susceptibility to Alzheimer’s disease (AD). Recently, several independent
studies have reported that a locus on chromosome 14q32.1, where a gene encoding a cholesterol degrading enzyme of the brain,
called 24-hydroxylase (CYP46A1) is located, has been linked with AD. The single nucleotide polymorphism (T/C) in intron 2
of CYP46 gene has been found to confer the risk for AD. The water soluble 24(S)-hydroxysterol is the product of the CYP46A1, and elevated plasma and cerebrospinal fluid hydroxysterol concentrations have
been found in AD, reflecting increased brain cholesterol turnover or cellular degradation, due to the neurodegenerative process.
A case–control study was performed on 125 AD and 102 age- and gender-matched control subjects (CNT) from Hungary, to test
the association of CYP46 T/C and apolipoprotein E (ApoE) gene polymorphisms in AD. The frequency of the CYP46 C allele was
similar (χ2=0.647, df=1, P=0.421, exact P=0.466, OR=0.845; 95% CI: 0.561–1.274) in both groups (CNT: 27%; 95% CI: 21.3–33.4; AD 30%; 95% CI: 25.0–36.3). The ApoE ɛ4
allele was significantly over-represented (χ2=11.029, df=2, P=0.004) in the AD population (23.2%; 95% CI: 18.2–29.0) when compared with the CNT (11.3%; 95% CI: 7.4–16.6). The presence
or absence of one or two CYP46C alleles together with the ApoE ɛ4 allele did not increase the risk of AD (OR=3.492; 95% CI:
1.401–8.707; P<0.007 and OR=3.714; 95% CI: 1.549–8.908; P<0.003, respectively). Our results indicate that the intron 2 T/C polymorphism of CYP46 gene (neither alone, nor together
with the ɛ4 allele) does not increase the susceptibility to late-onset sporadic AD in the Hungarian population. 相似文献
5.
Allozyme variations in six natural populations of scots pine (<Emphasis Type="Italic">Pinus sylvestris</Emphasis>) in Turkey 总被引:3,自引:0,他引:3
Genetic variation in six natural populations of Scots pine (Pinus sylvestris L.) was determined with isoenzyme analyses. For this purpose, haploid female gametophytes of seeds and horizontal starch
gel electrophoresis technique were used. A total of 17 loci and 58 alleles were observed in studying 10 enzyme systems. The
average proportion of polymorphic loci for populations ranged from 58.8% to 70.6%. The average number of alleles per locus
per population was 2.65. The mean estimated expected heterozygosity (He) of populations was 0.294. A rather high proportion
of genetic diversity (96.4%) was due to within-population variation and the remaining (3.6%) was due to variation among populations.
The level of gene flow (Nem) was found to be 6.69 per generation. Nei’s genetic distance coefficient ranged from 0.006 to 0.027 (mean 0.017) among all
possible population pairs. The mean value of Nei’s genetic distance is similar to the values reported for other European Scots
pine populations. The low mean value of Nei’s genetic distance among populations is enough to explain low interpopulation
variation. According to genetic variation parameters, three out of six populations (Akdagmadeni-Yozgat, Refahiye-Erzincan
and Vezirkopru-Samsun) appear to be preferable populations for genetic conservation and forest tree breeding programs. 相似文献
6.
The energy demands of the Eastern Finns were estimated with allowance for the anthropometric characteristics, environmental
conditions, and characteristics of traditional nature use. It was found that their energy demands under the conditions of
the traditional mode of life ranged from 2608 to 2957 kcal/day, which is much higher than the average caloric value of food
of the modern population of the Russian Federation (2488 kcal/day). The carriage frequency of allele apoE*4, which ensures a more rapid and complete utilization of dietary fats, was studied in the samples of Komi-Zyrians, Komi-Izhems,
Udmurtians, Meadow and Mountain Maris, and Komi-Permiaks. It was discovered that these people are characterized by a high,
on the European scale, proportion of apoE*4 allele carriers (13–24% in the examined samples versus 8–14% in East Slavic groups). It is assumed that, until the beginning
of the XX century, selection favored the preservation of sufficiently high concentrations of the apoE*4 allele in the populations of Eastern Finns, which allowed them to efficiently survive the periods of seasonal starvation
and food shortage. 相似文献
7.
F. Taguchi-Shiobara S. Y. Lin K. Tanno T. Komatsuda M. Yano T. Sasaki S. Oka 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1997,95(5-6):828-833
Quantitative trait loci (QTL) controlling the regeneration ability of rice seed callus were detected using 245 RFLP markers
and 98 BC1F5 lines derived from two varieties, ‘Nipponbare’ and ‘Kasalath’. Regeneration ability was evaluated by two indices: average
number of regenerated shoots per callus (NRS) and regeneration rate (RR). The BC1F5 lines showed continuous segregation for both indices. Five putative QTL for NRS (tentatively named qRg1, qRg2, qRg4a, qRg4b and qRg4c) located on chromosomes 1, 2 and 4 were detected. Digenic interaction among these detected QTL was not significant (P<0.01). Among the five QTL detected, four ‘Kasalath’ alleles and one ‘Nipponbare’ allele increased NRS. According to an estimate
based on the nearest marker loci, the five QTL accounted for 38.5% of the total phenotypic variation of the BC1F5 lines. For RR, four putative QTL were detected on chromosomes 2 and 4, and all of these were in the same chromosomal regions
as the NRS QTL. The four RR QTL accounted for 32.6% of the total phenotypic variation.
Received: 7 November 1996 / Accepted: 25 April 1997 相似文献
8.
The association of cholesteryl ester transfer protein (CETP) and apolipoprotein E (APOE) gene polymorphisms with mild cognitive impairment (MCI) is under debate. Our aim was to evaluate the relationship between
APOE and CETP genotypes with healthy ageing. We analysed 267 elderly subjects (55 to 80+ years), 163 with MCI and 104 healthy, and 50 healthy
control subjects (35 to 55 years) from a Romanian population. Biochemical parameters and thyroid hormones were assayed in
plasma. APOE and CETP TaqIB gene polymorphisms were determined. Elderly subjects had higher frequency of ɛ3/ɛ2 genotype (14.6% vs. 4%, P<0.001) than controls. Elderly subjects with MCI had lower high density lipoproteins (HDL) cholesterol (P=0.031), apoA-I
(P=0.018), T3 (P=0.002), T4 (P=0.028) and TSH (P=0.001) hormone levels, higher systolic blood pressure (P=0.005), lower frequency
of CETP B2 allele than the age-matched subjects. Healthy elderly subjects had CETP B2 allele associated with higher plasma apoA-I (P=0.021), lower circulating collagen (P=0.001) levels, and an increased frequency
of the combined APOE ɛ2- CETP B2 genotype (18.3%) relative to MCI elderly subjects (7.6%, P=0.011). Healthy elderly subjects are characterized by higher HDL
cholesterol, apoA-I levels and higher frequency of the combined APOE ɛ2 and CETP B2 alleles, indicating this pattern as representative for healthy ageing. 相似文献
9.
Contrasting patterns of geographic variation in the cosmopolitan sibling species Drosophila melanogaster and Drosophila simulans 总被引:4,自引:0,他引:4
An electrophoretic study was carried out to compare the geographic pattern of genetic variation in Drosophila simulans with that of its sibling species, Drosophila melanogaster. An identical set of 32 gene-protein loci was studied in four geographically distant populations of D. simulans and two populations of D. melanogaster, all originating from Europe and Africa. The comparison yielded the following results: (1) tropical populations of D. simulans were, in terms of the number of unique alleles, average heterozygosity per locus, and percentage of loci polymorphic, more variable than conspecific-temperate populations; (2) some loci in both species showed interpopulation differences in allele frequencies that suggest latitudinal clines; and (3) temperate-tropical genetic differentiation between populations was much less in D. simulans than in D. melanogaster. Similar differences between these two species have previously been shown for chromosomal, quantitative, physiological, and middle-repetitive DNA variation. Estimates of N
m
(number of migrants per generation) from the spatial distribution of rare alleles suggest that both species have similar levels of interpopulation gene flow. These observations lead us to propose two competing hypotheses: the low level of geographic differentiation in D. simulans is due to its evolutionarily recent worldwide colonization and, alternatively, D. simulans has a narrower niche than D. melanogaster. Geographic variation data on different genetic elements (e.g., mitochondrial DNA, two-dimensional proteins, etc.) are required before these hypotheses can be adequately tested.We thank the Natural Science and Engineering Research Council of Canada for financial support (Grant A0235 to R.S.S.). 相似文献
10.
L. U. Gerdes Christian Gerdes Peter Steen Hansen Ib Christian Klausen Ole Færgeman 《Human genetics》1996,98(2):239-242
The ɛ3 allele in the human gene coding for apolipoprotein E (apoE) is the most common worldwide, but ɛ4 is probably the ancestral
allele. Since apoE is involved in many important biological processes, selection forces could have favoured ɛ3. We hypothesized
that apoE genotypes may affect reproductive efficiency, and we therefore compared the distributions of 40-year-old married
men with known genotypes by the numbers of their biological children. The distributions were statistically significantly different
(P = 0.0026). On average, men with the ɛ3ɛ3 genotype (n = 212) had 1.93 children, men with the ɛ3ɛ4 or ɛ4ɛ4 genotype (n = 105) had 1.50, and men with the ɛ3ɛ2 or ɛ2ɛ2 genotypes (n = 53) had 1.66 children. Of the men in the three groups, 6%, 26% and 19%, respectively, reported being childless. These findings
are unlikely to be due to gross error in the reported prevalence of childlessness, differences in socioeconomic status or
other likely sources of bias. They are compatible with higher fertility in men with the ɛ3ɛ3 genotype than in those with the
other common apoE genotypes.
Received: 21 August 1995 / Revised: 25 February 1996 相似文献
11.
Circulating soluble adhesion molecules have been suggested as useful markers to predict several clinical conditions such as
atherosclerosis, type 2 diabetes, obesity, and hypertension. To determine genetic factors influencing plasma levels of soluble
vascular cell adhesion molecule-1 (VCAM-1) and P-selectin, quantitative trait locus (QTL) analysis was performed on an intercross
between C57BL/6J (B6) and C3H/HeJ (C3H) mouse strains deficient in apolipoprotein E-deficient (apoE−/−). Female F2 mice were fed a western diet for 12 weeks. One significant QTL, named sVcam1 (71 cM, LOD 3.9), on chromosome 9 and three suggestive QTLs on chromosomes 5, 13 and 15 were identified to affect soluble
VCAM-1 levels. Soluble P-selectin levels were controlled by one significant QTL, named sSelp1 (8.5 cM, LOD 3.4), on chromosome 16 and two suggestive QTLs on chromosomes 10 and 13. Both adhesion molecules showed significant
or an apparent trend of correlations with body weight, total cholesterol, and LDL/VLDL cholesterol levels in the F2 population. These results indicate that plasma VCAM-1 and P-selectin levels are complex traits regulated by multiple genes,
and this regulation is conferred, at least partially, by acting on body weight and lipid metabolism in hyperlipidemic apoE−/− mice.
Zuobiao Yuan and Zhiguang Su contributed equally. 相似文献
12.
F. Zannad S. Visvikis R. Gueguen C. Sass O. Chapet B. Herbeth G. Siest 《Human genetics》1998,103(2):183-188
In 76 supposedly healthy families, we investigated the familial resemblance of left and right carotid intima-media thickness
(IMT) measured by B-mode ultrasonography and the impact of the common apolipoprotein E (apo E) polymorphism and the insertion/deletion
polymorphism of the angiotensin-converting enzyme (ACE). Genetic factors accounted for about 30% of IMT variation. The insertion/deletion
ACE polymorphism did not influence carotid IMT, whereas apoE polymorphism explained about 1.5% of only right carotid IMT variability
independently of cholesterol levels. The apo ɛ2 and apo ɛ4 alleles were associated with lower right carotid IMT than was the
apo ɛ3 allele. We conclude that genetic factors strongly contribute to IMT variability in healthy people and that the apo
E polymorphism may be one of these factors.
Received: 10 November 1997 / Accepted: 20 Match 1998 相似文献
13.
To investigate whether there is any association between various APOE alleles and factor V Leiden (FVL) with lipid profiles
and sickle cell disease (SCD) in Southern Iran. 65 SCD patients consisting of 35 sickle cell anemia homozygous (SS), 15 sickle
cell heterozygous (AS) and 15 sickle cell/βThalassemia (S/βthal) patients and 68 healthy individuals with normal hematological
indices were studied. APOE and FVL polymorphisms were detected by PCR–RFLP and serum lipid level was measured enzymatically.
The frequencies of FVL and APOE-ε4 allele were significantly higher in SCD patients than in control (15.4 vs. 4.4 and 13.7%
vs. 3.3%, respectively). The distributions of APOE ε3ε3, ε2ε3 and ε2ε4 + ε3ε4 alleles in SCD patients were significantly different
from those in the control group. The SCD subjects particularly SS/S βthal (SS + S/βthal) and SS patients have significantly
lower frequency of APOE ε3ε3 allele (P < 0.05) whereas SCD, SS patients and AS individuals have a significantly higher frequency of APOE ε4 allele (ε2ε4 + ε3ε4;
P = 0.003, P = 0.011 and P = 0.035, respectively) compared to the control group. The LDL-C (P = 0.006) and total cholesterol (P < 0.001) levels in SCD subjects were found to be significantly lower than those in the control group. In addition, the presence
of non-APOE ε4 allele (ε2ε3 + ε3ε3) resulted in a significant decrease in the level of LDL-C and total cholesterol in SCD
subjects in general and in SS and SS/S βthal patients in particular compared to controls. Furthermore, the presence of APOE
ε4 allele (ε2ε4 + ε3ε4) was found to be associated with the risk of sickle cell anemia [OR = 4.1, P = 0.04]. The presence of either FVL mutation (OR = 4.6; CI: 0.91–24, P = 0.07) or APOE-ε4 allele (OR = 4.07; CI: 1.01–16.4, P = 0.048) is associated with the risk of sickle cell disease in Southern Iran. This data suggest that the activation of coagulation
system enhances thrombus generation and decreases antioxidant activity in SCD patients from Southern Iran. 相似文献
14.
Based on electrophoretic analysis of 21 isozyme loci controlling 10 enzyme systems, the intra- and interpopulation variation was studied in two peat-bog and three dry-meadow populations of the dwarf mountain pine Pinus mugoTurra from the highlands of the Ukrainian Carpathians. In the studied samples (a total of 164 trees), on average 62% of the studied genes were polymorphic; the mean heterozygosity was 21.3%. The dry-meadow populations differed from the peat-bog populations by allele and genotype diversity and by heterozygosity although the indices characterizing population heterogeneity (F
st and G
st) were small (0.027 and 0.032, respectively). Nei's genetic distances between the populations ranged of 0.011 to 0.032 with the mean of 0.018. 相似文献
15.
Genetic differentiation along environmental clines is often observed as a result of interplay between gene flow and natural
selection. In order to understand the relative roles of these processes in shaping this differentiation, we designed a study
in which we used two approaches that have not previously been combined, the Q
ST–F
ST comparison and crossbreeding. We examined (1) interpopulation phenotypic and genetic (AFLP) variation, and (2) performance
of interpopulation hybrids in a common annual Senecio glaucus. Fitness of interpopulation hybrids (F1 and F2) was tested under simulated population natural conditions in terms of aridity
and analyzed for a relationship with (1) spatial distance and (2) environmental differences (amount of annual rainfall). While
phenotypic variation corresponded to the clinal changes in aridity along population locations, viz. narrower and longer leaves,
longer leaf outgrowths and advanced flowering in more arid environments, the F
ST < 0.1 calculated from AFLP data suggested intensive interpopulation gene flow, with little if any contribution of genetic
drift. Performance of hybrids in simulated natural environments revealed heterosis in F1, but a hybrid breakdown in F2 generation.
These effects were related to both the spatial distance between hybrid parents and their population rainfall differences.
The detected clinal phenotypic variation and outbreeding depression in F2 strongly support presence of aridity-induced clinal
natural selection, which is matched by the observed Q
ST ≫ F
ST. From this we conclude that Q
ST–F
ST comparison can detect effect of diversifying selection when patterns of phenotypic variation across sampled locations can
be reliably predicted from environmental variation. 相似文献
16.
A. B. Livshyts S. A. Kravchenko O. A. Berestovoy V. M. Zinchenko L. A. Livshits 《Cytology and Genetics》2010,44(6):365-369
The frequency of heterozygote carriers of risk zone alleles of the FMR1 gene (40–47 CGG repeats) was significantly higher in the group of patients with ovarian dysfunctions compared to control
group I. The frequency of these alleles shows an increasing tendency in patients poorly responding to superovulation induction
in IVF cycles. The average number of oocytes and follicles obtained from the stimulation of superovulation was significantly
decreased in FMR1 gene heterozygous risk zone allele carriers as compared to patients with normal alleles of the FMR1 gene. The general average dosage of exogenous gonadotrophin necessary for superovulation induction was significantly higher
in heterozygote carriers of FMR1 gene risk zone alleles than in patients with normal genotype. As well, the FMR1 gene risk zone alleles can be one of the hereditary susceptibility factors of impaired natural and stimulated ovulation. 相似文献
17.
Bradley J. Willcox Gregory J. Tranah Randi Chen Brian J. Morris Kamal H. Masaki Qimei He D. Craig Willcox Richard C. Allsopp Stefan Moisyadi Leonard W. Poon Beatriz Rodriguez Anne B. Newman Tamara B. Harris Steven R. Cummings Yongmei Liu Neeta Parimi Daniel S. Evans Phil Davy Mariana Gerschenson Timothy A. Donlon 《Aging cell》2016,15(4):617-624
The G allele of the FOXO3 single nucleotide polymorphism (SNP) rs2802292 exhibits a consistently replicated genetic association with longevity in multiple populations worldwide. The aims of this study were to quantify the mortality risk for the longevity‐associated genotype and to discover the particular cause(s) of death associated with this allele in older Americans of diverse ancestry. It involved a 17‐year prospective cohort study of 3584 older American men of Japanese ancestry from the Honolulu Heart Program cohort, followed by a 17‐year prospective replication study of 1595 white and 1056 black elderly individuals from the Health Aging and Body Composition cohort. The relation between FOXO3 genotype and cause‐specific mortality was ascertained for major causes of death including coronary heart disease (CHD), cancer, and stroke. Age‐adjusted and multivariable Cox proportional hazards models were used to compute hazard ratios (HRs) for all‐cause and cause‐specific mortality. We found G allele carriers had a combined (Japanese, white, and black populations) risk reduction of 10% for total (all‐cause) mortality (HR = 0.90; 95% CI, 0.84–0.95; P = 0.001). This effect size was consistent across populations and mostly contributed by 26% lower risk for CHD death (HR = 0.74; 95% CI, 0.64–0.86; P = 0.00004). No other causes of death made a significant contribution to the survival advantage for G allele carriers. In conclusion, at older age, there is a large risk reduction in mortality for G allele carriers, mostly due to lower CHD mortality. The findings support further research on FOXO3 and FoxO3 protein as potential targets for therapeutic intervention in aging‐related diseases, particularly cardiovascular disease. 相似文献
18.
Background Dyslipidemia, a common complication, is very prevalent in children with primary nephrotic syndrome (PNS). Recent studies
have shown that genetic basis may be involved in the onset of HLP secondary to PNS. ApoB and E have been identified as the
important candidate genes for lipid abnormalities. Objective: To investigate the association of apolipoprotein B (apoB) and E (apoE) genetic polymorphisms (Xba I, EcoR I, Msp I, and Hha I) with parameters describing the serum lipid profiles in children undergoing PNS. Methods: Genomic DNA was extracted from 250 children diagnosed with PNS and 200 healthy controls with neither allergic nor renal
disease. ApoB (Xba I, EcoR I, and Msp I) and apoE (Hha I) genotypes were determined by PCR-restriction fragment length polymorphism (RFLP) analysis. The fasting serum lipoprotein
(a) [Lp(a)], total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein
cholesterol (LDL-C), apolipoprotein A1 (apoA1), apoB, and total protein from a 24-h urine sample were measured. Results: No significant differences in genotypes and alleles frequencies were observed for the apoB Xba I, EcoR I, Msp I and the apoE Hha I restriction sites in PNS patients as compared to controls (P > 0.05). Patients and controls with X + allele exhibited significantly higher serum levels of Lp(a), TC, nonHDL-C, LDL-C,
LDL-C/HDL-C ratio, and apoB than that with X− allele (P < 0.05), whereas for apoA1/B ratio the opposite was found (P < 0.01). E−/E− carriers had significantly higher Lp(a), TC, HDL-C, and apoA1 concentrations than did E+/E− or E+/E+ carriers
in control group (P < 0.05). Healthy children carrying the rare EcoR I allele had higher mean Lp(a), TC, and HDL-C levels than homozygotes for E+ (P < 0.05). Higher Lp(a) serum concentrations were observed in patients with E− allele (P < 0.05). No significant differences in lipid parameters were determined for the apoB Msp I and apoE Hha I the polymorphisms study (P > 0.05). When genetic variations were compared with urinary protein excretion, the Xba I X− allele was more frequent in patients with elevated proteinuria (P < 0.01). Conclusion: Presence of Xba I X+ allele and/or EcoR I E− at the apoB gene may be risk factors for lipid abnormalities secondary to childhood PNS. 相似文献
19.
M. N. Ruzina T. A. Shtyfurko M. R. Mohammadabadi O. B. Gendzhieva Tsendsuren Tsedev G. E. Sulimova 《Russian Journal of Genetics》2010,46(4):456-463
Polymorphism of the BoLA-DRB3 gene was studied with the use of the PCR-RFLP technique in three cattle breeds (Mongolian, Kalmyk, and Yakut) representing
the Bos taurus turano-mongolicus group. 35 BoLA-DRB3.2 alleles were detected in the Mongolian breed and 34 alleles in the Kalmyk breed. The frequencies of alleles in both populations
are distributed rather evenly: the frequencies of the most widely represented alleles (*18, *20, and *28) in the Mongolian cattle varied from 7.75 to 8.45%. The most frequent alleles in the Kalmyk cattle were *28 (14.52%), *24 (7.26%), and *12 (6.45%). Only five alleles were identified in the Yakut cattle breed. The prevailing allele was *29 (77.3%); a relatively frequent allele was *1 (13.1%), and the remaining three alleles constituted only 9.6%. Such a low level of diversity of BoLA-DRB3 gene alleles was not observed earlier in any other cattle breed. The Mongolian and Kalmyk breeds showed a wide diversity
of BoLA-DRB3 genotypes (56 and 51 genotypes, respectively) and a high level of expected heterozygosity (H
e = 0.953 and 0.946, respectively). Both breeds had a deficiency of heterozygotes (Mongolian cattle: H
o = 0.775, D = −0.187; Kalmyk cattle: H
o = 0.708, D = −0.252). A low level of genotypic diversity for the BoLA-DRB3 locus (only seven genotypes; the frequency for the genotype *29/*29 is 71.4%) and a very low level of observed heterozygosity (H
o = 0.12) were revealed in the Yakut breed. BoLA-DRB3.2 alleles associated with resistance to persistent lymphocytosis caused by the bovine leukemia virus (total frequencies 15.49
and 24.19%) and to various forms of mastitis (total frequencies 12.68 and 20.96%, respectively) were identified in the Mongolian
and Kalmyk animals. In the Yakut breed, alleles associated with resistance to diseases are represented only by the BoLA-DRB3.2 allele *7 (1.2%). Thus, the Mongolian and Kalmyk cattle breeds are characterized by a wide diversity of alleles and genotypes for the
BoLA-DRB3 gene. In contrast, the population of Yakut cattle from the Verkhoyanskii region of the Republic of Sakha has a poor diversity
of alleles and genotypes for the BoLA-DRB3 gene and a very low level of heterozygosity, suggesting an unfavorable state of the population that is probably caused by
inbreeding depression due to a long-term isolation and a small number of animals. 相似文献
20.
A. A. Pomortsev S. P. Martynov O. N. Kovaleva E. V. Lyalina 《Russian Journal of Genetics》2011,47(11):1372-1390
Starch gel electrophoresis was performed to study polymorphism of hordeins encoded by the Hrd A, Hrd B, and Hrd F loci in 366 local old barley accessions from Iran and Central Asian countries, including Turkmenistan, Uzbekistan, Tajikistan
(Mountain Badahsan), and Kirgizia. In total, 60 alleles with frequencies of 0.0003–0.2818 were observed for the Hrd A locus, 106 alleles with frequencies of 0.0003–0.1603 were observed for the Hrd B locus, and five alleles with frequencies of 0.0164–0.4131 were observed for the Hrd F locus. The alleles and allele frequencies displayed irregular distributions in barley populations of the above countries.
Cluster analysis of the matrix of allele frequencies in populations from known collection sites revealed a cluster structure
of local barley populations within each country. Local populations formed five differently sized clusters in Iran, six in
Turkmenistan, three in Uzbekistan, and three in Kirgizia. The variation and allele frequency distribution of the hordein-coding
loci in Iran and Central Asian countries were assumed to result from the introduction and spreading of barley forms via migrations
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