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1.
Dizier MH Bouzigon E Guilloud-Bataille M Genin E Oryszczyn MP Annesi-Maesano I Demenais F 《Human heredity》2007,63(3-4):162-167
OBJECTIVE: A recent genome scan conducted in French EGEA families led to detect linkage of 1p31 to either asthma or allergic rhinitis (AR) and more significantly to asthma associated with AR. The goal of the present study was to assess formally whether 1p31 is a linkage region shared by two different diseases, asthma and AR, or whether it is specific to the co-morbidity asthma plus AR. METHODS: We used two different statistical approaches: the Triangle Test Statistic (TTS) and the Predivided Sample Test (PST), to search for heterogeneity of linkage to 1p31 according to the affection status being defined by either the presence of the two diseases (asthma plus AR) or the presence of only one disease ('asthma only' or 'AR only' or 'asthma only or AR only'). RESULTS: While no heterogeneity between the 'two diseases' phenotype and the 'one disease' phenotype was detected by the TTS, there was significant evidence for heterogeneity (p = 0.00007/0.002 after correction for multiple testing) using the PST. There was no indication of linkage in sib-pairs with 'one disease' only, while there was significant evidence for linkage in sib-pairs displaying asthma plus AR (p = 0.0002/0.0016 after correction). CONCLUSION: The present analysis shows that the co-morbidity, asthma plus AR, represents a phenotypic entity, distinct from asthma only or AR only, controlled by a genetic factor located on 1p31. 相似文献
2.
Bouzigon E Ulgen A Dizier MH Siroux V Lathrop M Kauffmann F Pin I Demenais F 《Human genetics》2007,121(6):711-719
Although many genome screens have been conducted for asthma as a binary trait, there is limited information regarding the
genetic factors underlying variation of asthma expression. Phenotypes related to variable disease expression include time
to asthma onset and variation in clinical expression as measured by an asthma score built from EGEA data. A recent genome
scan conducted for this score led to detection of a new region (18p11) not revealed by analysis of dichotomous asthma. Our
goal was to characterize chromosomal regions harboring genes underlying time to asthma onset and to search for pleiotropic
QTL influencing both time to asthma onset and the asthma score. We conducted a genome-wide linkage screen for time to asthma
onset, modeled by martingale residuals from Cox survival model, in EGEA families with at least two asthmatic sibs. This was
followed by a bivariate linkage scan of these residuals and asthma score. Univariate linkage analysis was performed using
the Maximum Likelihood Binomial method that we extended to bivariate analysis. This screen revealed two regions potentially
linked to time to asthma onset, 1p31 (LOD = 1.70, P = 0.003) and 5q13 (LOD = 1.87, P = 0.002). Bivariate linkage analysis led to a substantial improvement of the linkage signal on 5q13 (P = 0.00007), providing evidence for a pleiotropic QTL influencing both variation of time to asthma onset and of clinical expression.
Use of quantitative phenotypes of variable disease expression and suitable statistical methodology can improve the power to
detect new regions harboring genes which may play an important role in onset and course of disease. 相似文献
3.
Devlin B Klei L Myles-Worsley M Tiobech J Otto C Byerley W Roeder K 《Human genetics》2007,121(6):675-684
While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown.
We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this “hit” is
precipitated by environmental stressors biologically interacting with maternal genetic vulnerability to the stress. Additional
liability to Scz is generated by individual genetic vulnerability. To evaluate these putative levels of vulnerability, we
search in the genome of both affected individuals and their mothers for variation that differs, statistically, from that in
the general population. For parental analyses, mothers were treated as “affected,” rather than their offspring, and the fathers
were treated as “controls”. We used a sample from the Palauan population: 175 individuals diagnosed with Scz, broadly defined;
87 mothers and 45 fathers of affected individuals. Pedigree and diagnostic data were available on 2,953 living and deceased
subjects. DNA from 553 individuals was genotyped for short tandem repeats (STR) spaced approximately every 10 cM across the
genome. We tested for association between affection status and STR alleles; such an approach was reasonable, despite the widely
spaced markers, because this population has far-ranging linkage disequilibrium (LD). Results for the truly affected individuals
were modest, whereas results from the maternal generation were promising. For a recessive model and a test for excess allele
matching across mothers, significant findings occurred for D20S481, D10S1221, D6S1021, D13S317, and D18S976. Regions in which
at least two adjacent markers produced substantial association statistics include 2p12-11.2, 2q24.1-32.1, 6q12-14.1, 10q23.2-24.21,
12q23.2-24.21 and 17q23.2-23.3. 相似文献
4.
Hillmer AM Flaquer A Hanneken S Eigelshoven S Kortüm AK Brockschmidt FF Golla A Metzen C Thiele H Kolberg S Reinartz R Betz RC Ruzicka T Hennies HC Kruse R Nöthen MM 《American journal of human genetics》2008,82(3):737-743
Androgenetic alopecia (AGA, male pattern baldness) is the most common form of hair loss. The origin of AGA is genetic, with the X chromosome located androgen receptor gene (AR) being the only risk gene identified to date. We present the results of a genome-wide linkage study of 95 families and linkage fine mapping of the 3q21-q29, 11q14-q25, 18p11-q23, and 19p13-q13 regions in an extended sample of 125 families of German descent. The locus with strongest evidence for linkage was mapped to 3q26 with a nonparametric linkage (NPL) score of 3.97 (empirical p value = 0.00055). This is the first step toward the identification of new susceptibility genes in AGA, a process which will provide important insights into the molecular and cellular basis of scalp hair loss. 相似文献
5.
Elena S. Gusareva Helena Havelková Hana Blažková Marcela Kosařová Petr Kučera Vlastimil Král Daria Salyakina Bertram Müller-Myhsok Marie Lipoldová 《Immunogenetics》2009,61(1):15-25
Atopy is a predisposition to hyperproduction of immunoglobulin E (IgE) against common environmental allergens. It is often
associated with development of allergic diseases such as asthma, rhinitis, and dermatitis. Production of IgE is influenced
by genetic and environmental factors. In spite of progress in the study of heredity of atopy, the genetic mechanisms of IgE
regulation have not yet been completely elucidated. The analysis of complex traits can benefit considerably from integration
of human and mouse genetics. Previously, we mapped a mouse IgE-controlling locus Lmr9 on chromosome 4 to a segment of <9 Mb. In this study, we tested levels of total IgE and 25 specific IgEs against inhalant
and food allergens in 67 Czech atopic families. In the position homologous to Lmr9 on chromosome 8q12 marked by D8S285, we demonstrated a novel human IgE-controlling locus exhibiting suggestive linkage to
composite inhalant allergic sensitization (limit of detection, LOD = 2.11, P = 0.0009) and to nine specific IgEs, with maximum LOD (LOD = 2.42, P = 0.0004) to plantain. We also tested 16 markers at previously reported chromosomal regions of atopy. Linkage to plant allergens
exceeding the LOD > 2.0 was detected at 5q33 (D5S1507, LOD = 2.11, P = 0.0009) and 13q14 (D13S165, LOD = 2.74, P = 0.0002). The significant association with plant allergens (quantitative and discrete traits) was found at 7p14 (D7S2250,
corrected P = 0.026) and 12q13 (D12S1298, corrected P = 0.043). Thus, the finding of linkage on chromosome 8q12 shows precision and predictive power of mouse models in the investigation
of complex traits in humans. Our results also confirm the role of loci at 5q33, 7p14, 12q14, and 13q13 in control of IgE.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
6.
Gray-McGuire C Sinha R Iyengar S Millard C Rybicki BA Elston RC Iannuzzi MC;SAGA Study Consortium 《Human genetics》2006,120(3):420-430
Sarcoidosis, a systemic granulomatous disease, likely results from both environmental agents and genetic susceptibility. Sarcoidosis is more prevalent in women and, in the United States, African Americans are both more commonly and more severely affected than Caucasians. We report a follow up of the first genome scan for sarcoidosis susceptibility genes in African Americans. Both the genome scan and the present study comprise 229 African American nuclear families ascertained through two or more sibs with sarcoidosis. Regions studied included those which reached a significance in the genome scan of 0.01 (2p25, 5q11, 5q35, 9q34, 11p15 and 20q13), 0.05 (3p25 and 5p15–13) or which replicated previous findings (3p14–11). We performed genotyping with additional markers in the same families used in the genome scan. We examined multi-locus models for epistasis and performed model-based linkage analysis on subsets of the most linked families to characterize the underlying genetic model. The strongest signal was at marker D5S407 (P=0.005) on 5q11.2, using both full and half sibling pairs. Our results support, in an African American population, a sarcoidosis susceptibility gene on chromosome 5q11.2, and a gene protective for sarcoidosis on 5p15.2. These fine mapping results further prioritize the importance of candidate regions on chromosomes 2p25, 3p25, 5q35, 9q34, 11p15 and 20q13 for African Americans. Additionally, our results suggest joint action of the effects of putative genes on chromosome 3p14–11 and 5p15.2. We conclude that multiple susceptibility loci for sarcoidosis exist in African Americans and that some may have interdependent effects on disease pathogenesis. 相似文献
7.
Petra Pilařová Grégoire Marandel Véronique Decroocq Jaroslav Salava Boris Krška Albert G. Abbott 《Tree Genetics & Genomes》2010,6(3):467-475
Plum pox virus (PPV) is a devastating stone fruit disease of major importance, and better understanding of the genetic control
of resistance to this trait would be useful for more efficient development of resistant cultivars. Previous studies have reported
a locus of major effect from PPV resistance on linkage group 1. The current study confirms these results by mapping plum pox
virus resistance in a F1 progeny issued from a cross between “Harlayne”, as a PPV-resistant parent, and “Vestar” as a susceptible
parent. The hybrids were grafted simultaneously and subsequently inoculated with the PPV-M and D strains. The symptom scoring
on leaves was performed nine times over two vegetative cycles. Marker–trait associations were analyzed using the Kruskal–Wallis
(KW) non-parametric test, and the PPV resistance loci were mapped using composite interval mapping (CIM). We show that both
analyses (KW and CIM) highlighted the upper part of linkage group 1 of the apricot “Harlayne” genitor. 相似文献
8.
QTL analysis of fruit components in the progeny of a Rennell Island Tall coconut (Cocos nucifera L.) individual 总被引:2,自引:0,他引:2
Baudouin L Lebrun P Konan JL Ritter E Berger A Billotte N 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2006,112(2):258-268
We investigated the genetic factors controlling fruit components in coconut by performing QTL analyses for fruit component
weights and ratios in a segregating progeny of a Rennell Island Tall genotype. The underlying linkage map of this population
was already established in a previous study, as well as QTL analyses for fruit production, which were used to complement our
results. The addition of 53 new markers (mainly SSRs) led to minor amendments in the map. A total of 52 putative QTLs were
identified for the 11 traits under study. Thirty-four of them were grouped in six small clusters, which probably correspond
to single pleiotropic genes. Some additional QTLs located apart from these clusters also had relatively large effects on the
individual traits. The QTLs for fruit component weight, endosperm humidity and fruit production were found at different locations
in the genome, suggesting that efficient marker-assisted selection for yield can be achieved by selecting QTLs for the individual
components. The detected QTLs descend from a genotype belonging to the “Pacific” coconut group. Based on the known molecular
and phenotypic differences between “Pacific” and “Indo-Atlantic” coconuts, we suggest that a large fraction of coconut genetic
diversity is still to be investigated by studying populations derived from crosses between these groups.
Electronic Supplementary Material Supplementary material is available for this article at and is accessible for authorized users. 相似文献
9.
Aoki M Yamamoto K Ohyama S Yamamura Y Takenoshita S Sugano K Minamoto T Kitajima M Sugimura H Shimada S Noshiro H Hiratsuka M Sairenji M Ninomiya I Yano M Uesaka K Matsuno S Maehara Y Aikou T Sasazuki T 《Biochemical and biophysical research communications》2005,335(2):566-574
Association analysis, based on linkage disequilibrium between specific alleles in the candidate loci and nearby genetic markers, has been proposed to identify genes conferring susceptibility to multifactorial diseases. Using the affected sib-pair method, we previously mapped four candidate chromosomal regions, 1p32, 2q33-q35, 11p13-p14, and 21q21, for gastric cancer by linkage analysis. To identify genes involved in the disease, we performed a gene-based association analysis of 66 genes, located on 21p11-21q22, using 126 single nucleotide polymorphisms (SNPs) as genetic markers in 373 patients with 250 controls. We found a significant association of five SNPs in the stress70 protein chaperon family member STCH gene with gastric cancer, especially with the non-cardia localization subgroup (P = 0.0005-0.02, odds ratio = 1.44-1.72). Comparisons of haplotype frequency showed significant association between TTGGC haplotype and gastric cancer (P = 0.0001, odds ratio = 1.59). These results suggest that, in the Japanese population, STCH might be a new candidate for conferring susceptibility to this disease. 相似文献
10.
QTL Mapping for Frond Length and Width in Laminaria japonica Aresch (Laminarales, Phaeophyta) Using AFLP and SSR Markers 总被引:1,自引:0,他引:1
Fuli Liu Zhanru Shao Haining Zhang Jidong Liu Xiuliang Wang Delin Duan 《Marine biotechnology (New York, N.Y.)》2010,12(4):386-394
In Laminaria japonica Aresch breeding practice, two quantitative traits, frond length (FL) and frond width (FW), are the most important phenotypic
selection index. In order to increase the breeding efficiency by integrating phenotypic selection and marker-assisted selection,
the first set of QTL controlling the two traits were determined in F2 family using amplified fragment length polymorphism (AFLP) and simple sequence repeat (SSR) markers. Two prominent L. japonicas inbred lines, one with “broad and thin blade” characteristics and another with “long and narrow blade” characteristics, were
applied in the hybridization to yield the F2 mapping population with 92 individuals. A total of 287 AFLP markers and 11 SSR markers were used to construct a L. japonica genetic map. The yielded map was consisted of 28 linkage groups (LG) named LG1 to LG28, spanning 1,811.1 cM with an average
interval of 6.7 cM and covering the 82.8% of the estimated genome 2,186.7 cM. While three genome-wide significant QTL were
detected on LG1 (two QTL) and LG4 for “FL,” explaining in total 42.36% of the phenotypic variance, two QTL were identified
on LG3 and LG5 for the trait “FW,” accounting for the total of 36.39% of the phenotypic variance. The gene action of these
QTL was additive and partially dominant. The yielded linkage map and the detected QTL can provide a tool for further genetic
analysis of two traits and be potential for maker-assisted selection in L. japonica breeding. 相似文献
11.
12.
M. B. Freidin E. Yu. Bragina O. S. Fedorova I. A. Deev E. S. Kulikov L. M. Ogorodova V. P. Puzyrev 《Molecular Biology》2011,45(3):421-429
Genome-wide association studies are currently considered as one of the most powerful tools for establishing the genetic basis
of complex diseases. A number of such studies have been carried out for allergic diseases; however, in the Russian population,
this analysis has not been performed so far. For the first time, we performed a genome-wide association study of allergic
diseases in Russian residents of West Siberia. Two new loci associated with childhood bronchial asthma (20q13.12, rs2425656,
P = 1.99 × 10−7; 1q32.1, rs3817222, rs12734001, P = 2.18 × 10−7 and 2.79 × 10−7, respectively) as well as one locus associated with allergic rhinitis (2q36.1, rs1597167, P = 3.69 × 10−7) were identified. Genes located in these loci, YWHAB and PPP1R12B for asthma and KCNE4 for allergic rhinitis, are suggested as new candidate genes for these diseases. It was also found that BAT1 (6p21.33), MAGI2 (7q21.11), and ACPL2 (3q23) are probably common (syntropic) genes of allergic disease and atopic sensitization. It was shown that RIT2 (18q12.3) and FSTL4 (5q31.1) genes can be involved in the control of lung function. The results of the study contribute to the body of data on
genetic factors of allergy and expand the list of genes underlying these diseases. 相似文献
13.
Jacqueline Milet Gregory Nuel Laurence Watier David Courtin Yousri Slaoui Paul Senghor Florence Migot-Nabias Oumar Gaye André Garcia 《PloS one》2010,5(7)
Multiple factors are involved in the variability of host''s response to P. falciparum infection, like the intensity and seasonality of malaria transmission, the virulence of parasite and host characteristics like age or genetic make-up. Although admitted nowadays, the involvement of host genetic factors remains unclear. Discordant results exist, even concerning the best-known malaria resistance genes that determine the structure or function of red blood cells. Here we report on a genome-wide linkage and association study for P. falciparum infection intensity and mild malaria attack among a Senegalese population of children and young adults from 2 to 18 years old. A high density single nucleotide polymorphisms (SNP) genome scan (Affimetrix GeneChip Human Mapping 250K-nsp) was performed for 626 individuals: i.e. 249 parents and 377 children out of the 504 ones included in the follow-up. The population belongs to a unique ethnic group and was closely followed-up during 3 years. Genome-wide linkage analyses were performed on four clinical and parasitological phenotypes and association analyses using the family based association tests (FBAT) method were carried out in regions previously linked to malaria phenotypes in literature and in the regions for which we identified a linkage peak. Analyses revealed three strongly suggestive evidences for linkage: between mild malaria attack and both the 6p25.1 and the 12q22 regions (empirical p-value = 5×10−5 and 9×10−5 respectively), and between the 20p11q11 region and the prevalence of parasite density in asymptomatic children (empirical p-value = 1.5×10−4). Family based association analysis pointed out one significant association between the intensity of plasmodial infection and a polymorphism located in ARHGAP26 gene in the 5q31–q33 region (p-value = 3.7×10−5). This study identified three candidate regions, two of them containing genes that could point out new pathways implicated in the response to malaria infection. Furthermore, we detected one gene associated with malaria infection in the 5q31–q33 region. 相似文献
14.
Linkage and association to candidate regions in Swedish atopic dermatitis families 总被引:12,自引:0,他引:12
Söderhäll C Bradley M Kockum I Wahlgren CF Luthman H Nordenskjöld M 《Human genetics》2001,109(2):129-135
We have studied, in 406 families with at least two siblings affected with atopic dermatitis (in total 1514 individuals) from the Swedish population, linkage and association to five chromosomal regions (2q35, 5q31-33, 6p21, 11q13 and 14q11) previously implicated in atopic diseases. The region on 14q11 gave evidence for linkage to atopic dermatitis (NPL-score: 2.36, P<0.009). In the 11q13 region, there was a clear association to an intragenic marker in the beta-subunit of the high-affinity IgE receptor for raised allergen-specific serum IgE levels (P<0.009). When a quantitative variable for the severity of atopic dermatitis was studied, evidence was found in favour of linkage to the 5q31-33 region, with the highest Z-score (2.06) close to the marker D5S458 (P<0.005). 相似文献
15.
Xing C Sestak AL Kelly JA Nguyen KL Bruner GR Harley JB Gray-McGuire C 《Human genetics》2007,120(5):623-631
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by both population and phenotypic heterogeneity.
Our group previously identified linkage to SLE at 4p16 in European Americans (EA). In the present study we replicate this
linkage effect in a new cohort of 76 EA families multiplex for SLE by model-free linkage analysis. Using densely spaced microsatellite
markers in the linkage region, we have localized the potential SLE susceptibility gene(s) to be telomeric to the marker D4S2928
by haplotype construction. In addition, marker D4S394 showed marginal evidence of linkage disequilibrium with the putative
disease locus by the transmission disequilibrium test and significant evidence of association using a family-based association
approach as implemented in the program ASSOC. We also performed both two-point and multipoint model-based analyses to characterize
the genetic model of the potential SLE susceptibility gene(s), and the lod scores both maximized under a recessive model with
penetrances of 0.8. Finally, we performed a genome-wide scan of the total 153 EA pedigrees and evaluated the possibility of
interaction between linkage signals at 4p16 and other regions in the genome. Fourteen regions on 11 chromosomes (1q24, 1q42,
2p11, 2q32, 3p14.2, 4p16, 5p15, 7p21, 8p22, 10q22, 12p11, 12q24, 14q12, 19q13) showed evidence of linkage, among which, signals
at 2p11, 12q24 and 19q13 also showed evidence of interaction with that at 4p16. These results provide important additional
information about the SLE linkage effect at 4p16 and offer a unique approach to uncovering susceptibility loci involved in
complex human diseases. 相似文献
16.
Allergic diseases affect more than 25% of the world population and result from a complex interplay between genetic and environmental factors. Recent evidence has shown that BDNF (Brain Derived Neurotrophic Factor) could serve as an important marker of allergic disease. Increased levels of BDNF in blood, bronchoalveolar lavage fluid and nasal lavage fluid positively correlate with disease activity and severity in patients with allergic rhinitis (AR), asthma and atopic eczema. However, reports on the association between genetic variation in BDNF and allergic disease have been controversial. This study therefore aims to clarify the relationship between single nucleotide polymorphisms (SNPs) in BDNF and a genetic predisposition to AR and asthma in an ethnic Chinese population of Singapore. Volunteers with a self-reported history of asthma (718 subjects) or a history of AR as determined by a researcher-administered questionnaire (795 subjects) were used in this study, alongside controls with no personal or family history of allergy (717 subjects). The association results identified a significant association for the tagSNP rs10767664 with a significant PDominant = 0.0007 and OR = 1.3 for AR and PDominant = 0.0005 and OR = 1.3 for asthma (using a dominant model of association). The haplotype based analysis also identified a significant association further confirming the single SNP association. The SNP rs10767664 is strongly linked (r2 = 0.95) to the functional polymorphism rs6265 (Val66Met), which has previously been reported to be associated to allergic phenotypes and also shown to affect BDNF expression. BDNF is a therefore a key molecular player in allergy. Further studies on polymorphisms within BDNF may shed light on its role in the pathogenesis of allergic diseases and potentially serve as biomarkers for allergic disease. 相似文献
17.
Siroux V Bouzigon E Dizier MH Pin I Demenais F Kauffmann F;EGEA cooperative group 《PloS one》2008,3(6):e2448
Polymorphisms in ADAM33, the first gene identified in asthma by positional cloning, have been recently associated with psoriasis. No replication study of this association has been published so far. Data available in the French EGEA study (Epidemiological study on Genetics and Environment of Asthma, bronchial hyperresponsivensess and Atopy) give the opportunity to attempt to replicate the association between ADAM33 and psoriasis in 2002 individuals. Psoriasis (n = 150) has been assessed by questionnaire administered by an interviewer and a sub-sample of subjects with early-onset psoriasis (n = 74) has been identified based on the age of the subjects at time of interview (<40 years). Nine SNPs in ADAM33 and 11 SNPs in PSORS1 were genotyped. Association analysis was conducted by using two methods, GEE regression-based method and a likelihood-based method (LAMP program). The rs512625 SNP in ADAM33 was found associated with psoriasis at p = 0.01, the usual threshold required for replication (OR [95% CI] for heterozygotes compared to the reference group of homozygotes for the most frequent allele = 0.61 [0.42;0.89]). The rs628977 SNP, which was not in linkage disequilibrium with rs512625, was significantly associated with early-onset psoriasis (p = 0.01, OR [95% CI] for homozygotes for the minor allele compared to the reference group = 2.52 [1.31;4.86]). Adjustment for age, sex, asthma and a PSORS1 SNP associated with psoriasis in the EGEA data did not change the significance of these associations. This suggests independent effects of ADAM33 and PSORS1 on psoriasis. This is the first study that replicates an association between genetic variants in ADAM33 and psoriasis. Interestingly, the 2 ADAM33 SNPs associated with psoriasis in the present analysis were part of the 3-SNPs haplotypes showing the strongest associations in the initial study. The identification of a pleiotropic effect of ADAM33 on asthma and psoriasis may contribute to the understanding of these common immune-mediated diseases. 相似文献
18.
Louise O’Donnell Bridgette Soileau Patricia Heard Erika Carter Courtney Sebold Jon Gelfond Daniel E. Hale Jannine D. Cody 《Human genetics》2010,128(2):155-164
Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like
behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic
behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings
of behavior on the Gilliam Autism Rating Scale. Forty-five individuals (43%) had scores within the “possibly” or “very likely”
categories of risk for an autism diagnosis. We searched for genetic determinants of autism by (1) identifying additional chromosome
copy number changes (2) Identifying common regions of hemizygosity on 18q, and (3) evaluating four regions containing candidate
genes located on 18q (MBD1, TCF4, NETO1, FBXO15). Three individuals with a “very likely” probability of autism had a captured 17p telomere in addition to the 18q deletion
suggesting a possible synergy between hemizygosity of 18q and trigosity of 17p. In addition, two of the individuals with an
18q deletion and a “very likely” probability of autism rating had a duplication of the entire short arm of chromosome 18.
Although no common region of hemizygosity on 18q was identified, analysis of four regions containing candidate genes suggested
that individuals were significantly more likely to exhibit autistic-like behaviors if their region of hemizygosity included
TCF4, NETO1, and FBXO15 than if they had any other combination of hemizygosity of the candidate genes. Taken together, these findings identify several
new potential candidate genes or regions for autistic behaviors. 相似文献
19.
This article is a review of scientific publications, in which issues of pathogenetics of multifactorial diseases (MFDs) are
considered from the viewpoint of evolution and ontogeny. Concepts explaining significance of evolutionary processes in the
formation of genetic architecture of human chronic diseases (“thrifty” genomes and phenotypes, “drifty genes,” decanalization)
are analyzed. The roles of natural selection and genetic drift in the formation of hereditary diversity of genes for susceptibility
to MFDs are considered. The modern concept of “disease ontogeny” (somatic mosaicism, loss of heterozygosity, paradominant
inheritance, epigenetic variability) is discussed. It is demonstrated that the evolutionary and ontogenetic approaches to
analysis of genimuc and other “-omic” data are essential for understanding the biology of diseases. 相似文献
20.
Wu X Vuong TD Leroy JA Grover Shannon J Sleper DA Nguyen HT 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2011,122(6):1179-1187
Soybean BAC-based physical maps provide a useful platform for gene and QTL map-based cloning, EST mapping, marker development,
genome sequencing, and comparative genomic research. Soybean physical maps for “Forrest” and “Williams 82” representing the
southern and northern US soybean germplasm base, respectively, have been constructed with different fingerprinting methods.
These physical maps are complementary for coverage of gaps on the 20 soybean linkage groups. More than 5,000 genetic markers
have been anchored onto the Williams 82 physical map, but only a limited number of markers have been anchored to the Forrest
physical map. A mapping population of Forrest × Williams 82 made up of 1,025 F8 recombinant inbred lines (RILs) was used to construct a reference genetic map. A framework map with almost 1,000 genetic
markers was constructed using a core set of these RILs. The core set of the population was evaluated with the theoretical
population using equality, symmetry and representativeness tests. A high-resolution genetic map will allow integration and
utilization of the physical maps to target QTL regions of interest, and to place a larger number of markers into a map in
a more efficient way using a core set of RILs. 相似文献