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11.
SE Andrew 《Clinical genetics》2003,64(4):293-296
12.
Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample 总被引:3,自引:0,他引:3
Faraone SV Skol AD Tsuang DW Bingham S Young KA Prabhudesai S Haverstock SL Mena F Menon AS Bisset D Pepple J Sautter F Baldwin C Weiss D Collins J Keith T Boehnke M Tsuang MT Schellenberg GD 《American journal of medical genetics》2002,114(6):598-604
Several prior reports have suggested that chromosomal region 13q32 may harbor a schizophrenia susceptibility gene. In an attempt to replicate this finding, we assessed linkage between chromosome 13 markers and schizophrenia in 166 families, each with two or more affected members. The families, assembled from multiple centers by the Department of Veterans Affairs Cooperative Studies Program, included 392 sampled affected subjects and 216 affected sib pairs. By DSM-III-R criteria, 360 subjects (91.8%) had a diagnosis of schizophrenia and 32 (8.2%) were classified as schizoaffective disorder, depressed. The families had mixed ethnic backgrounds. The majority were northern European-American families (n = 62, 37%), but a substantial proportion were African-American kindreds (n = 60, 36%). Chromosome 13 markers, spaced at intervals of approximately 10 cM over the entire chromosome and 2-5 cM for the 13q32 region were genotyped and the data analyzed using semi-parametric affected only linkage analysis. For the combined sample (with race broadly defined and schizophrenia narrowly defined) the maximum LOD score was 1.43 (Z-score of 2.57; P = 0.01) at 79.0 cM between markers D13S1241 (76.3 cM) and D13S159 (79.5 cM). Both ethnic groups showed a peak in this region. The peak is within 3 cM of the peak reported by Brzustowicz et al. [1999: Am J Hum Genet 65:1096-1103]. 相似文献
13.
Shimizu S Krafchak C Fuse N Epstein MP Schteingart MT Sugar A Eibschitz-Tsimhoni M Downs CA Rozsa F Trager EH Reed DM Boehnke M Moroi SE Richards JE 《American journal of medical genetics. Part A》2004,(4):372-377
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at (circumflex)theta = 0.03), D10S1780 (at (circumflex)theta = 0.00), and D10S578 (at (circumflex)theta = 0.06). A maximum multi-point LOD score of 4.35 was found at marker D10S1780. Affected family members shared a haplotype in an 8.55 cM critical interval that was bounded by markers D10S213 and D10S578. Our finding of another PPCD locus, PPCD3, on chromosome 10 indicates that PPCD is genetically heterogeneous. Guttae, a common corneal finding sometimes observed along with PPCD, were found among both affected and unaffected members of the proband's sib ship, but were absent in the younger generations of the family. Evaluation of phenotypic differences between family members sharing the same affected haplotype raises questions about whether differences in disease severity, including differences in response to surgical interventions, could be due to genetic background or other factors independent of the PPCD3 locus. 相似文献
14.
15.
Inhibition of return (IOR) refers to slowed responses to targets presented at the same location as a preceding stimulus. We explored whether the IOR effect would increase with the number of cues preceding the target (a ‘cue’). Subjects performed a Posner cueing task with 1–5 cue presentations prior to the target, to which they made either a manual localization (Experiment 1) or target discrimination response (Experiment 2). The cues could be the same as (Experiment 1), or differ in shape from (Experiment 2), the target. The results showed that regardless of cue-target congruency the IOR effect increased dramatically with the number of preceding cues. This increase was driven mostly by a linear slowing of reaction times to targets presented on the same side as the cue(s), suggesting that a process such as sensory adaptation and/or habituation may be a contributing mechanism to the IOR effect. 相似文献
16.
Debelenko LV; Brambilla E; Agarwal SK; Swalwell JI; Kester MB; Lubensky IA; Zhuang Z; Guru SC; Manickam P; Olufemi SE; Chandrasekharappa SC; Crabtree JS; Kim YS; Heppner C; Burns AL; Spiegel AM; Marx SJ; Liotta LA; Collins FS; Travis WD; Emmert-Buck MR 《Human molecular genetics》1997,6(13):2285-2290
Lung carcinoids occur sporadically and rarely in association with multiple
endocrine neoplasia type 1 (MEN1). There are no well defined genetic
abnormalities known to occur in these tumors. We studied 11 sporadic lung
carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene
on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy
fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was
studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene
were inactivated. All four tumors showed the presence of a MEN1 gene
mutation and loss of the other allele. Observed mutations included a 1 bp
insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide
substitution affecting a donor splice site. Each mutation predicts
truncation or potentially complete loss of menin. The remaining seven
tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH.
The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a
complex germline MEN1 gene mutation. The data implicate the MEN1 gene in
the pathogenesis of sporadic lung carcinoids, representing the first
defined genetic alteration in these tumors.
相似文献
17.
We performed a study to evaluate the influence of methylcellulose (MC) on the corneal epithelial wound healing. A precise epithelial wound 2.0 mm in diameter and 70 microm in depth was created by an excimer laser on the cornea of a pig's eyeball. After treatment, the eyeballs were cultured in the incubator and perfused with TC-199 medium into the vitreous cavity. Topical MC with eight different combinations of concentrations and viscosities for experimental groups and BSS for the control group were applied on the epithelial defects three times. Wounds were evaluated 24 hours later with fluorescein stain and recorded with a scoring system. All of the experimental groups except one showed a more statistically significant superior wound-healing rate than the control group. MC possesses the effect to accelerate corneal epithelial wound healing. 相似文献
18.
A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma 总被引:8,自引:2,他引:8
Chen J; Giovannucci E; Hankinson SE; Ma J; Willett WC; Spiegelman D; Kelsey KT; Hunter DJ 《Carcinogenesis》1998,19(12):2129-2132
We examined the relationship between a functional polymorphism (667C--
>T, ala-->val) of the methylenetetrahydrofolate reductase gene
(MTHFR) and the risk of colorectal adenomas in the prospective Nurses'
Health Study. Among 257 incident polyp cases and 713 controls, the MTHFR
val/val polymorphism [relative risk (RR) = 1.35, 95% confidence interval
(CI) 0.84-2.17] was not significantly associated with risk of adenomas.
This lack of association was observed for both small (RR = 1.36, 95% CI
0.76-2.45) and large (RR = 1.32, 95% CI 0.66-2.66) adenomas. Furthermore,
there was no significant interaction between this polymorphism and
consumption of either folate, methionine or alcohol. We also examined the
relationship of a newly identified polymorphism (asp919gly) of the
methionine synthase gene (MS) with the risk of colorectal adenomas in the
same population. The MS gly/gly polymorphism was also not significantly
associated with risk of colorectal adenomas (RR = 0.66, 95% CI 0.26-1.70).
These results, which need to be confirmed in other studies, suggest that
the MTHFR val/val polymorphism, which has been previously inversely
associated with risk of colorectal cancer, plays a role only in a late
stage (adenoma-- >carcinoma) of colorectal tumorigenesis, and/or may
protect against malignant transformation in the subset of benign adenomas,
which may progress to malignancy.
相似文献
19.
20.
Transforming growth factor beta (TGF-beta) is a bifunctional regulator of the growth of myeloid progenitors and is here demonstrated to directly inhibit the growth of primitive erythroid progenitors by 95% to 100% regardless of the cytokines stimulating growth. Autocrine TGF- beta production of primitive hematopoietic progenitors has previously been reported. In the present study, a neutralizing TGF-beta antibody (anti-TGF-beta) added to serum-containing cultures, resulted in a 3-, 4- , and 25-fold increase in burst-forming unit erythroid (BFU-E) colony formation in response to interleukin-4 (IL-4) plus erythropoietin (Epo), SCF plus Epo, and IL-11 plus Epo, respectively. The growth of BFU-E progenitors has been suggested to require a burst-promoting activity in addition to Epo. Accordingly, we observed no BFU-E colony formation in serum-containing cultures in response to Epo alone. In contrast, 50 BFU-E colonies were formed when anti-TGF-beta was included in the culture. In serum-free cultures, Epo also stimulated BFU-E colony formation in the absence of other cytokines, whereas anti-TGF- beta had no effect on the number of colonies formed. Quantitation of TGF-beta 1 in serum by an enzyme-linked immunosorbent assay method showed predominantly the presence of precursor (latent) TGF-beta 1, but also showed active TGF-beta 1 at a concentration sufficient to potently inhibit erythroid colony formation. Thus, neutralization of active TGF- beta 1 in serum shows that Epo alone is sufficient to stimulate the growth of murine BFU-E progenitors. 相似文献