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1.
Summary Chromosomal Q polymorphism was studied in 157 adolescents of Yakut nationality (67 males and 90 females) living in Eastern Siberia, on the territory of the Yakut ASSR. Of the 157 subjects, 123 had chromosomal Q variants while 34 (21.7%) had no Q-heterochromatin bands with fluorescence levels 4 and 5. The mean number of Q variants per individual ranged from 0 to 5, with a mean of 1.64. No differences were observed in the frequency of Q variants between sexes. The observed homo- and heteromorph frequencies always agreed with those predicted by the law of Hardy-Weinberg. Of the 157 subjects, four (2.55%) had pericentric inversion of the Q-heterochromatin band in chromosome 3. The following topics are discussed: (1) possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to extreme environmental factors, in particular to cold; (2) the taxonomic value of chromosomal Q polymorphism in ethnic anthropology.  相似文献   

2.
Summary Q-heterochromatin variants in seven autosomes (3, 4, 13–15, 21, 22) were studied in two Mongoloid populations of northern Asia (Chukchi and Khakass). Q-staining was obtained using propylquinacrine mustard. Of 132 Chukchi individuals aged 13 to 20 years, 124 had Q-polymorphic chromosomes, while eight (6.0%) had no bands with fluorescence levels 4 and 5. The mean number of Q variants was 2.2 per individual.Of the 120 Khakass individuals aged 14 to 17 years, 112 had Q-polymorphic chromosomes, while eight (6.7%) had no Q variants with fluorescence levels 4 and 5. The mean number of Q variants was 2.5 per individual. No differences were found in the frequency of Q variants between sexes in the two populations. There was complete agreement between the observed homo-and heteromorphic frequencies and those predicted by the law of Hardy-Weinberg. As the Mongoloid populations of northern Asia showed statistically significant homogeneity both in the frequency of Q variants and the distribution of homo-and heteromorphic variants, they were examined as a single group—that of northern Mongoloids. The following questions are discussed: (1) the possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to certain extreme environmental factors, in particular to cold and hypoxia; (2) the intraracial heterogeneity of Asian Mongoloids; (3) the taxonomic value of chromosomal Q polymorphism in ethnic anthropology.  相似文献   

3.
Summary The distribution pattern of Q-heterochromatin variants in seven autosomes (3, 4, 13–15, 21, and 22) was studied in three aboriginal Negroid populations of Africa (Mozambique, Angola, and Ethiopia). It was shown that among African Negroids there are no individuals completely lacking Q-heterochromatin bands with fluorescence levels 4 and 5. The mean number of Q variants per individual was 3.47, 4.80, and 4.85 in the Ethiopian, Mozambique, and Angola populations, respectively. The observed homo- and heteromorphic frequencies always agreed with those predicted by the law of Hardy-Weinberg. The populations of tropical lowland Negroids (Mozambique and Angola) proved to be significantly homogeneous both in the frequency of Q variants and the mean number of these variants per individual, so they were examined as a single group. However, comparative analysis of highland (Ethiopians) and lowland Negroids revealed statistically significant differences. The following questions are discussed: (1) the possible selective value of chromosomal Q heterochromatin material in the adaptation of human populations to high-altitude climate; (2) the possible existence of intraracial heterogeneity in Negroids living in different ecological zones of Africa; (3) the possible taxonomic value of an inverted Q-heterochromatin band in chromosome 3 in ethnic anthropology.  相似文献   

4.
The distribution of chromosomal Q-polymorphic bands was studied in different human populations. The populations studied showed no differences in the relative amount of Q bands in all the 12 polymorphic loci of seven autosomes, but interpopulation differences did exist in the absolute amount of Q bands in all the 12 potentially polymorphic loci of seven autosomes, these differences consisting of uniform increases or decreases in this absolute amount. Comparisons of the mean number of Q-heterochromatin bands with fluorescence levels 4 and 5 per individual showed a consistent prevalence of this quantitative parameter of chromosomal Q polymorphism in females as compared to males in all the national groups. It is suggested that there is some dosage compensation of chromosomal Q-heterochromatin material in females due to the absence of a chromosome in their genome, which is able to "compensate" for the large Q band in chromosome Y which is present only in the karyotype of males.  相似文献   

5.
Summary A comparative study of frequencies and types of Q-polymorphic variants in seven autosome pairs (3, 4, 13–15, 21, and 22) was performed in three steppe Mongoloid populations of Central Asia (Kazakhs, Dunghans, Mongolians) and three highland Kirghiz populations of Pamir and Tien-Shan. The three steppe Mongoloid populations showed statistically significant homogeneity both in the frequency of Q-polymorphic variants and the distribution of homo- and heteromorphs, with complete agreement of observed frequencies with those theoretically predicted by the law of Hardy-Weinberg. Similar homogeneity was revealed in the three highland Kirghiz populations of Pamir and Tien-Shan. However, comparative analysis of highland and steppe Mongoloids revealed significant differences in the following variables: (1) mean number of Q variants per individual, 2.50 and 3.49 in the highland and steppe populations, respectively; (2) frequency of Q variants in 7 of the 12 autosomes studied; and (3) distribution of homo- and heteromorphs in four autosomal pairs (13–15, 21) with a preponderance of individuals with increased homomorph (-/-) frequency in highlanders.The following questions are discussed: (1) the possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to extreme environmental factors, in particular to the high-altitude environment of Pamir and Tien-Shan; (2) the existence of intraracial heterogeneity in Mongoloids living in different ecological zones; and (3) the possible taxonomic value of Q-variant inversion in chromosome 3.  相似文献   

6.
Summary Chromosomal Q polymorphism was studied in 200 Russian individuals (94 females and 106 males) living in Kirghizia. Of the 200 individuals, 191 had chromosomal Q polymorphic variants, while nine (4.5%) had no Q bands with fluorescence levels 4 and 5. The mean number of Q variants per individual ranged from 0 to 7, with a mean of 2.9. There were no differences in the frequency of Q variants between sexes. The observed homo- and heteromorphic frequencies completely agreed with those predicted by the law of Hardy-Weinberg. Of the 200 individuals, 12 (6.0%) had pericentric inversion of the Q band in chromosome 3, one individual (0.5%) having a homomorphic form of this inversion. The possible selective value of chromosomal Q heterochromatin material in the adaptation of human populations to extreme environmental factors, in particular to cold, and the possible taxonomic value of inverted Q heterochromatin bands in chromosome 3 in ethnic anthropology, are discussed.  相似文献   

7.
Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer   总被引:5,自引:0,他引:5  
Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI polymorphism of the apo B gene was examined in patients with GBC and GS and in normal controls in a north Indian population. DNA samples from patients with GBC (n=153), GS (n=117) and healthy subjects (n=137) were analysed for the apoB-XbaI polymorphism by polymerase chain reaction followed by restriction fragment length polymorphism. The genotype X+/– was less frequent in patients with GBC (39.2%) than in those with GS (68.3%) and in normal subjects (66.4%; P<0.00001). In contrast, there was an increase in the homozygous X–/– genotype in patients with GBC (54.9%) as compared with those with GS (23.9%) and normal subjects (25.5%; P<0.00001). The frequency of the X– allele was found to be significantly increased in GBC patients with or without GS (odds ratio=2.3 and 1.7, respectively). We suggest that the apoB-XbaI gene polymorphism confers susceptibility to carcinoma of the gallbladder under specific environmental conditions.  相似文献   

8.
The potential association between the K121Q (A/C, rs1044498) polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1) gene and risk of diabetic kidney disease (DKD) has been investigated. Nevertheless, the effect of this variant on DKD risk is still under debate, and conflicting results have been reported. To this date, no meta-analysis has evaluated the association of the K121Q polymorphism with DKD. This paper describes the first meta-analysis conducted to evaluate whether the ENPP1K121Q polymorphism is associated with DKD. A literature search was conducted to identify all case-control or cross-sectional studies that evaluated associations between the ENPP1K121Q polymorphism and DKD. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated for allele contrast, additive, dominant and recessive inheritance models. Seven studies were eligible for inclusion in the meta-analysis, providing data on 3571 type 1 or type 2 diabetic patients (1606 cases with DKD and 1965 diabetic controls without this complication). No significant heterogeneity was observed among the studies included in the meta-analysis when assuming different inheritance models (I² < 50% or P > 0.10 for the entire sample and after stratification by ethnicity). Meta-analysis results revealed significant associations between the K121Q polymorphism and risk of DKD in Asians and Europeans when assuming the different inheritance models analyzed. The most powerful association was observed for the additive model (OR = 1.74, 95% CI 1.27-2.38 for the total sample). In conclusion, the present meta-analysis detected a significant association between the ENPP1K121Q polymorphism and increased susceptibility of DKD in European and Asian populations.  相似文献   

9.
Esterase isozyme polymorphism was documented for digestive juice and haemolymph of the tropical multivoltine silkworm, Bombyx mori L., breed CB5 (GP) and its syngenic lines (CB5Lme-1, CB5Lm-2 and CB5Lm-5) using α- and β-naphthylacetate separately as nonspecific substrates (Ogita, Z., Kasai, T., 1965. Genetico-biochemical analysis of specific esterases in Musca domestica. Jpn. J. Genet. 40, 173–184). Polymorphism existed in the isozyme pattern of α-esterase with two or three bands in digestive juice and three to five bands in haemolymph. No polymorphism was observed in β-esterase isozyme pattern having four bands in digestive juice and two bands in haemolymph. During the course of esterase isozyme studies, the presence of some specific α-esterase bands (Est-1, 4 and 5) in haemolymph and β-esterase bands (Est-1, 2 and 3) in digestive juice were observed. But both α- and β-esterase bands Est-3 and 4 in digestive juice and Est-2 and 3 in haemolymph were found to be nonspecific. Nonspecific β-esterase band (Est-3) in haemolymph of CB5 (GP) and its syngenic lines withstood a temperature up to 80±1°C for 10 min. No thermostable band was observed in the isozyme zymogram of α-esterase in digestive juice and haemolymph or β-esterase in digestive juice. Overall, this study discusses the presence of esterase heterogeneity in the CB5 (GP) genepool, syngenic lines development, occurrence of specific α- and β-esterase bands in digestive juice and haemolymph and thermostable β-esterase band Est-3 in haemolymph in tropical silkworm Bombyx mori L.  相似文献   

10.
11.
Summary The localization of the human genes for cytosolic and mitochondrial aspartate aminotransferase (AspAT) has been determined by chromosomal in situ hybridization with specific human cDNA probes previously characterized in our laboratory. The cytosolic AspAT gene is localized on chromosome 10 at the interface of bands q241–q251. Mitochondrial AspAT is characterized by a multigene family located on chromosomes 12 (p131–p132), 16 (q21), and 1 (p32–p33 and q25–q31). Genomic DNA from ten blood donors was digested by ten restriction enzymes, and Southern blots were hybridized with the two specific probes. Restriction fragment length polymorphism was revealed in only one case for cytosolic AspAT, with PvuII, while no polymorphism for mitochondrial AspAT was found.  相似文献   

12.
Present study was aimed to explore the effect of (TA)n UGT1A1 gene promoter polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in Sickle-Cell Anemia (SCA) and beta-Thalasemia major (bTH) in Kuwaiti subjects compared to other population. This polymorphism was analyzed and correlated to total bilirubin and cholelithiasis in 270 age, gender, ethnically matched subjects (92 bTH, 116 SCA and 62 Controls) using PCR, dHPLC, fragment analysis and direct sequencing. Four genotypes of UGT1A1 were detected in this study (TA6/6, TA6/7, TA6/8 and TA7/7). (TA)6/8 was found only in four individuals; hence it was not included in the analysis. There was a statistically significant association of genotypes with serum total bilirubin levels in both bTH and SCA groups (p<0.001). Subjects with (TA)7/7 had the highest total serum bilirubin level (178.7±3.5 µmole/l). A significant association was observed between allele (TA)7 and cholelithiasis development (p = 0.0001). The 40%, 67.5% and 100% of SCA with (TA)6/6, (TA)6/7 and (TA)7/7 respectively developed cholelithiasis and were subsequently cholecystectomized. Our results confirm UGT1A1 (TA)7 allele as one of the factors accounting for the hyperbilirubinemia and cholelithiasis observed in SCA and bTH.  相似文献   

13.
This study is an extension of the experimental research of Nalçac et al., who presented 16 subjects with a reversal of checkerboard pattern as stimuli in the right visual field or left visual field and recorded EEG at O1, O2, P3, and P4. They applied the chosen bandpass filters (4–8, 8–15, 15–20, 20–32 Hz) to the VEPs of subjects and obtained four different components for each VEP. The first aim of this study is to improve the previous report using some methods in time-frequency domain to estimate interhemispheric delays and amplitudes in a time window. Using the improved estimates of interhemispheric delays, the second aim is to estimate the proportion of callosal fibers of different diameters that are activated by visual stimuli by comparing amplitudes of VEPs in different frequency bands. If the relation between frequency components of VEP and delays for callosal fibers of different dimension were reliable, it would give us an opportunity to deal with amplitude of bandpass-filtered VEPs in order to see approximately the proportion of these fibers activated by a certain stimulus. By using frequency-dependent shifts in time and maximizing the cross correlation of direct VEP (DVEP–VEP obtained from contralateral hemisphere)–indirect VEP (IVEP–VEP obtained from ipsilateral hemisphere) pairs in the time-frequency domain, we examined the delay not only at P100 and N160 peaks but along a meaningful time interval as well. Furthermore, by shifting back the IVEP according to the delay estimated at each time window, both the amplitudes and energies of the synchronized DVEP–IVEP pairs were compared at the chosen frequency bands. The percentages of IVEPs at each band was then examined further in conjunction with the distribution of axon diameters in the posterior pole of the CC, questioning the relation between the distributions of the axon diameters and activations at each band. We established an energy definition to express the activation in the fibers. When the energy percentages of IVEPs in theta and alpha were totaled, they were found to be between 76.2% and 81.6%, which is close to the value 74–77% for fibers of 0.4–1 m in diameter obtained from anatomical study of human CC. The sum of energy percentages in the beta1 and beta2 bands was between 20.1% and 24.2%, which probably reflects the proportion of activation of callosal fibers 1–3 m in diameter.  相似文献   

14.

AIMS AND OBJECTIVES:

The present study was evaluated the atheroprotective potential of paraoxonase1 (PON1) and its Q192R polymorphism, to determine whether this polymorphism, which is responsible for differential PON1 activity plays any role in the pathogenesis, severity and extent of coronary artery disease (CAD).

MATERIALS AND METHODS:

This hospital-based cross-sectional study investigated 60 diagnosed cases of CAD and 60 age and gender matched controls. All were assessed for serum PON1 activity, PON1 Q192R polymorphism and for classical cardiovascular risk factors. Individual serum phenotyping for PON1 Q192R polymorphism was determined by double substrate hydrolysis assay. Severity of CAD was assessed by the length of intensive cardiac care unit (ICCU) stay.

RESULTS:

Serum PON1 activity is significantly reduced in cases of CAD (92.6 ± 31.13 IU/L when compared with controls (105.26 ± 32.53 IU/L). Furthermore, serum arylesterase activity is reduced in CAD patients (90.31 ± 23.26 kU) when compared with the control subjects (101.61 ± 28.68 kU). Serum PON1 and arylesterase activities are significantly negatively correlated with the length of ICCU stay (r = −393 and r = −374 respectively). There is no significant difference in the occurrence of CAD and length of ICCU stay among the PON1 phenotypes (P = 0.92). Logistic regression analysis after adjustment of established risk factors revealed no significant association between CAD risk and PON1 Q192R polymorphism (odds ratios: 1.179 [95% confidence intervals: 0.507-2.744], P = 0.702).

SUMMARY AND CONCLUSIONS:

The current study demonstrates that the activity of the PON1 enzyme may be more important factor than the PON1 Q192R polymorphism in the severity and extent of CAD.  相似文献   

15.

Background

The associations between the interleukin-4 receptor α chain (IL4RA) I50V and Q551R polymorphisms and asthma risk remained controversial.

Methods

We searched the Pubmed, Embase, Chinese National Knowledge Infrastructure (CNKI) and Wanfang databases for studies published before February 2013. The strengths of the associations were calculated using odds ratios (ORs) with 95% confidence intervals (CIs).

Results

A total of 50 studies were included in this meta-analysis. There was a significant association between the IL4RA I50V polymorphism and asthma risk in a dominant genetic model (OR = 1.13, 95% CI 1.04–1.23, P = 0.005). The IL4RA Q551R polymorphism was associated with a significantly elevated asthma risk in a recessive genetic model (OR = 1.46, 95% CI 1.22–1.75, P<0.0001). Subgroup analyses found that the IL4RA I50V polymorphism was significantly associated with asthma risk in Asians (OR = 1.72, 95% CI 1.31–2.25, P<0.0001), pediatric asthma risk (OR = 1.50, 95% CI 1.13–1.99, P = 0.005), and atopic asthma risk (OR = 1.88, 95% CI 1.27–2.79, P = 0.002).

Conclusions

The results of this meta-analysis suggested that the IL4RA I50V and Q551R polymorphisms may be risk factors for developing asthma.  相似文献   

16.

Objective

To investigate the association between serum 25-hydroxyvitamin D [25(OH)D] levels and nonalcoholic fatty liver disease (NAFLD) independent of visceral obesity in Koreans and to examine whether the associations differ according to the presence of diabetes or insulin resistance.

Research Design and Methods

A total of 1081 adults were enrolled from a population-based cohort in Ansan city. Serum 25(OH)D concentrations were measured in all subjects. Insulin resistance was measured by homeostasis model assessment of insulin resistance (HOMA-IR). Using computed tomography, NAFLD was diagnosed if the liver attenuation index (LAI, the difference between the mean hepatic and splenic attenuation) was <5 Hounsfield Units.

Results

In subjects with diabetes (n = 282), 25(OH)D levels were negatively associated with waist circumference, fasting insulin, HOMA-IR, triglyceride levels, and visceral abdominal fat, and were positively associated with LAI after adjusting for age, sex, season, exercise, and vitamin supplementation. In subjects without diabetes, only triglyceride level was negatively associated with 25(OH)D. The adjusted odds ratio (OR) for NAFLD increased sequentially across decreasing quartiles of 25(OH)D in subjects with diabetes even after adjusting for visceral fat [Q1 vs. Q4; OR for NAFLD 2.5 (95% CI:1.0–6.2)]. In contrast, no significant difference in OR was observed in subjects without diabetes. When we classified non-diabetic subjects by HOMA-IR, an increase in the OR for NAFLD across decreasing quartiles of 25(OH)D was observed in the high HOMA-IR (≥2.5) group [n = 207, Q1 vs. Q4; OR 3.8(1.4–10.3)], but not in the low HOMA-IR (<2.5) group [n = 592, OR 0.8 (0.3–1.9)].

Conclusions

Low vitamin D status is closely associated with NAFLD, independent of visceral obesity in subjects with diabetes or insulin resistance.  相似文献   

17.
Endogenous phosphorylation of proteins from rat brain synaptosomal plasma membranes was studied in vitro. Cyclic AMP (cAMP) markedly stimulated32P incorporation in three protein bands with molecular weights of 75,000, 57,000, and 54,000, respectively. The effect of the behaviorally active peptide ACTH1–24 on this endogenous phosphorylation in vitro was studied using peptide concentrations from 10–10 to 10–4 M. In a number of protein bands, a biphasic effect of ACTH1–24 was observed: in concentrations of 10–4–10–5 M, a reduced amount of32P was found; in concentrations of 10–6–10–7 M, hardly any effect could be detected, whereas consistently at concentrations around 10–8 M, a significant decrease was again observed. The phosphoprotein bands affected by in vitro addition of ACTH1–24 were of a smaller molecular weight than those affected by in vitro addition of cAMP.  相似文献   

18.
Single-strand conformaiton polymorphism (SSCP) profiles of six PCR-amplified fragments (250–800 bp) were analyzed in three full-sib families of pedunculate oak (Quercus robur L.) and their parents. Among the six fragments, four were polymorphic and one exhibited complex patterns that were not changed by varying the SSCP conditions. The number of bands for the analyzed fragments varied between two and four among individuals regardless of fragment size. As shown by segregation data, the variation in the number of bands between trees could only be attributed to the allelic composition (homozygotes vs heterozygotes): a genotype that exhibited two bands was presumptively homozygous, wheras a genotype exhibiting three or four bands was heterozygous. Mendelian proportions were observed in all crosses for each polymorphic fragment. In one cross, we could clearly identify a null allele due to a possible mutation at a primer site. Single-base mutations and short insertion-deletions were shown to be the molecular causes of the SSCP polymorphism observed between different alleles. The use of SSCP as a technique to identify co-dominant markers of PCR fragments (up to 800 bp) is recommended for gene diversity studies or for gene mapping.  相似文献   

19.
Aim: Polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene (A-2518G) has been associated with functional effects. The aim of the present study was to assess the effect of this polymorphism on end-stage renal disease (ESRD) and cardiovascular disease (CVD) in hemodialyzed patients. Methods: A total of 720 patients with ESRD treated with hemodialysis (450 patients with CVD) and 325 healthy control subjects were genotyped for the MCP-1 -2518 polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) procedure. Results: There was a significant difference in genotype frequencies between entire group of hemodialyzed patients and controls (p < 0.01). The odds ratio for the risk allele was 1.85, 95% CI 1.49–2.32 (p < 0.01). Hemodialyzed patients were divided into subgroups with CVD (n = 450) and without CVD (n = 270). The G allele carriers occurred with significantly higher frequency in patients with CVD (62% vs. 38% in patients without CVD and 36% in controls). The odds ratio for the risk allele for patients with CVD vs. those without CVD was 2.17, 95% CI 1.71–2.79. There was no statistically significant difference in the distribution of MCP-1 genotypes between ESRD patients without CVD and healthy controls. Conclusion: Our results demonstrate for the first time an association between the polymorphism in the regulatory region of the MCP-1 gene and susceptibility to CVD in hemodialyzed patients.  相似文献   

20.
The subject of this study is chromosomal polymorphism of a population of Baikal endemic species Sergentia flavodentata (Diptera, Chironomidae) from Frolikha Bay region of hydrothermal venting at a depth of 420–430 m. In 35–67% of larvae, six heterozygous inversions were found to be preserved for 13 years (materials of 1991, 1994, 1996, 1999, 2003). The number of zygotic combinations reached 14; 0.5–0.7 inversions per individual was observed. It is suggested that stable chromosomal polymorphism characteristic of this species is nonrandom, being a mechanism of the population adaptation to the specific conditions of hydrothermal venting community based on bacterial biochemosynthesis.Translated from Genetika, Vol. 41, No. 3, 2005, pp. 366–373.Original Russian Text Copyright © 2005 by Proviz.  相似文献   

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