American Journal of Medical Genetics最新文献_第10页

Facial anomalies in combined methylmalonic aciduria and homocystinuria. 甲基丙二酸尿和同型半胱氨酸尿合并的面部异常。

American Journal of Medical Genetics Pub Date : 2000-11-06

R Cerone, M C Schiaffino, U Caruso, R Gatti

引用次数: 0

Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. 孤立病例正常亲属受不完全渗透条件影响的杂合概率及其后代复发风险的计算。常染色体显性基因。

American Journal of Medical Genetics Pub Date : 2000-11-06

P A Otto, S R Maestrelli

引用次数: 0

Erratum: finckh U, Schroder J, ressler B, veske A, gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J med genet 92:40-46 勘误:finckh U, Schroder J, ressler B, veske A, gal A.临床怀疑l1疾病的分离和家族性病例L1CAM突变谱和检出率。[J]医学杂志92:40-46

American Journal of Medical Genetics Pub Date : 2000-10-23

Ghadami, Tomita, Najafi, Damavandi, Farahvash, Yamada, Majidzadeh-A, Niikawa

引用次数: 0

Mapping quantitative trait loci that regulate sensitivity and tolerance to quinpirole, a dopamine mimetic selective for D(2)/D(3) receptors. 定位调节对喹匹罗的敏感性和耐受性的数量性状位点，喹匹罗是一种多巴胺模拟D(2)/D(3)受体的选择性。

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<696::aid-ajmg17>3.0.co;2-6

K Buck, T Lischka, J Dorow, J Crabbe

{"title":"Mapping quantitative trait loci that regulate sensitivity and tolerance to quinpirole, a dopamine mimetic selective for D(2)/D(3) receptors.","authors":"K Buck, T Lischka, J Dorow, J Crabbe","doi":"10.1002/1096-8628(20001009)96:5<696::aid-ajmg17>3.0.co;2-6","DOIUrl":"https://doi.org/10.1002/1096-8628(20001009)96:5<696::aid-ajmg17>3.0.co;2-6","url":null,"abstract":"Acute sensitivity and tolerance to quinpirole (a dopamine mimetic with selectivity for D(2)/D(3) dopamine receptors) were evaluated in the C57BL/6J and DBA/2J inbred strains of mice, 24 of their BXD recombinant inbred strains, and 233 F(2) mice. Baseline locomotor activity, locomotor activity following 0.03 mg/kg quinpirole (and 0. 01 mg/kg in BXD mice), body temperature following 1 mg/kg quinpirole, and hypothermic tolerance following 2 or 3 days of quinpirole administration were evaluated. Quantitative trait locus (QTL) analysis was employed to identify genetic determinants of baseline locomotor activity and five behavioral responses to quinpirole. We examined correlated allelic variation in genetic markers of known chromosomal location with variation in each of these phenotypes. We definitively mapped a QTL on Chromosome (Chr) 9 linked to the D(2) dopamine receptor gene, Drd2, for hypothermic sensitivity to quinpirole, and identify a suggestive QTL in the same chromosomal region for tolerance to quinpirole after repeated treatments. Suggestive QTLs were also identified on Chr 19 for sensitivity and tolerance to quinpirole-induced hypothermia and for baseline locomotor activity; on Chr 15 for locomotor sensitivity to quinpirole; and on Chr 13 and 5 for baseline locomotor activity. Our results indicate that genetic differences in quinpirole sensitivity and tolerance are associated with QTLs near Drd2, and that baseline locomotor activity is associated with a suggestive QTL in proximity to the dopamine transporter gene Dat1. These data suggest that the genes influencing locomotor activity, dopamine mimetic sensitivity, and tolerance do not overlap completely.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 5","pages":"696-705"},"PeriodicalIF":0.0,"publicationDate":"2000-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001009)96:5<696::aid-ajmg17>3.0.co;2-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21883737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 21

Antisociality, substance dependence, and the DRD5 gene: a preliminary study. 反社会，物质依赖和DRD5基因:初步研究。

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<654::aid-ajmg11>3.0.co;2-y

M M Vanyukov, H B Moss, B B Kaplan, G P Kirillova, R E Tarter

引用次数: 38

Genetic and environmental influences on adolescent substance use and abuse. 遗传和环境对青少年药物使用和滥用的影响。

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<671::aid-ajmg14>3.0.co;2-w

M McGue, I Elkins, W G Iacono

{"title":"Genetic and environmental influences on adolescent substance use and abuse.","authors":"M McGue, I Elkins, W G Iacono","doi":"10.1002/1096-8628(20001009)96:5<671::aid-ajmg14>3.0.co;2-w","DOIUrl":"https://doi.org/10.1002/1096-8628(20001009)96:5<671::aid-ajmg14>3.0.co;2-w","url":null,"abstract":"The inheritance of substance use and abuse among adolescents was investigated in a sample of 626 male and female 17-year-old twin pairs. Both licit (tobacco) and illicit (e.g., marijuana, amphetamines) substance use and abuse was assessed and analyzed using standard biometric methods. The heritability of use and abuse of illicit substances was modest (25% or less), whereas the heritability of tobacco use and nicotine dependence was substantial (40% to 60%). There was no evidence that gender moderated the strength of genetic influences. Shared environmental influences were substantial for all substance use measures. The finding of greater genetic influence on the use and abuse of a licit substance than on the use and abuse of illicit substances suggests that inherited risk to drug abuse is considerably moderated by environmental control, at least in adolescence. The finding of significant environmental influences on all substance use measures underscores the importance of intervention on early adolescent substance use, a known predictor of adult substance abuse and dependence.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 5","pages":"671-7"},"PeriodicalIF":0.0,"publicationDate":"2000-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001009)96:5<671::aid-ajmg14>3.0.co;2-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21883196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 209

Genetic and environmental influences on behavioral disinhibition. 基因和环境对行为去抑制的影响。

American Journal of Medical Genetics Pub Date : 2000-10-09

S E Young, M C Stallings, R P Corley, K S Krauter, J K Hewitt

{"title":"Genetic and environmental influences on behavioral disinhibition.","authors":"S E Young, M C Stallings, R P Corley, K S Krauter, J K Hewitt","doi":"","DOIUrl":"","url":null,"abstract":"Comorbidity among childhood disruptive behavioral disorders is commonly reported in both epidemiologic and clinical studies. These problems are also associated with early substance use and other markers of behavioral disinhibition. Previous twin research has suggested that much of the covariation between antisocial behavior and alcohol dependence is due to common genetic influences. Similar results have been reported for conduct problems and hyperactivity. For the present study, an adolescent sample consisting of 172 MZ and 162 DZ twin pairs, recruited through the Colorado Twin Registry and the Colorado Longitudinal Twin Study were assessed using standardized psychiatric interviews and personality assessments. DSM-IV symptom counts for conduct disorder and attention deficit hyperactivity disorder, along with a measure of substance experimentation and novelty seeking, were used as indices of a latent behavioral disinhibition trait. A confirmatory factor model fit to individual-level data showed a strong common factor accounting for 16-42% of the observed variance in each measure. A common pathway model evaluating the genetic and environmental architecture of the latent phenotype suggested that behavioral disinhibition is highly heritable (a(2) = 0.84), and is not influenced significantly by shared environmental factors. A residual correlation between conduct disorder and substance experimentation was explained by shared environmental effects, and a residual correlation between attention deficit hyperactivity disorder and novelty seeking was accounted for by genetic dominance. These results suggest that a variety of adolescent problem behaviors may share a common underlying genetic risk.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 5","pages":"684-95"},"PeriodicalIF":0.0,"publicationDate":"2000-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21883736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vulnerability to addiction: new research opportunities. 上瘾的脆弱性:新的研究机会。

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<590::aid-ajmg2>3.0.co;2-2

A I Leshner

引用次数: 15

Functional variants at CYP2A6: new genotyping methods, population genetics, and relevance to studies of tobacco dependence. CYP2A6的功能变异:新的基因分型方法、群体遗传学和与烟草依赖研究的相关性

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r

C P Zabetian, J Gelernter, J F Cubells

{"title":"Functional variants at CYP2A6: new genotyping methods, population genetics, and relevance to studies of tobacco dependence.","authors":"C P Zabetian, J Gelernter, J F Cubells","doi":"10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r","DOIUrl":"https://doi.org/10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r","url":null,"abstract":"Cytochrome P450CYP2A6 (CYP2A6) is the predominant enzyme responsible for the metabolism of nicotine to cotinine. Two variants have been identified that encode products presumed to have little or no activity. A previous study suggested that carriers of at least one copy of either null variant may be protected against tobacco dependence, while tobacco-dependent carriers smoke fewer cigarettes. However, different laboratories have reported widely disparate CYP2A6 allele frequencies across European populations. These differences prompted us to reexamine the genotyping methods for CYP2A6. We developed an improved genotyping strategy using CYP2A6-specific nested PCR, and differential restriction enzyme digestion to identify variant nucleotides in exon 3. We used sequencing to verify genotype results and to assess the sequence of exon 4, which previous work predicted should correspond to \"wild-type\" CYP2A6 sequence. In addition, we developed a new nomenclature in which CYP2A6*1 is designated CYP2A6*A1-*B1, CYP2A6*2 is CYP2A6*A2, and CYP2A6*3 is CYP2A6*B2. The frequencies of CYP2A6*A2 and CYP2A6*B2 were then estimated in samples from six populations. Sequencing confirmed CYP2A6*A2 genotypes in all cases. Unexpectedly, sequencing demonstrated exon 4 sequence corresponding to CYP2A7 in samples genotyped as CYP2A6*B2. In the population study, we found consistently low allele frequencies (</=5%) for CYP2A6*A2 and CYP2A6*B2 in all samples examined. The molecular data from this study suggest that further physical mapping may be necessary to clarify the structure of CYP2A6*B2. The population results suggest that in many populations the frequencies of the variants examined are quite low, and might therefore limit the power of future genetic association studies of tobacco dependence based on these variants.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 5","pages":"638-45"},"PeriodicalIF":0.0,"publicationDate":"2000-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21883191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Association analysis of polymorphisms in the DRD4 gene and heroin abuse in Chinese subjects. 中国人DRD4基因多态性与海洛因滥用的相关性分析。

American Journal of Medical Genetics Pub Date : 2000-10-09 DOI: 10.1002/1096-8628(20001009)96:5<616::aid-ajmg6>3.0.co;2-7

T Li, Z H Zhu, X Liu, X Hu, J Zhao, P C Sham, D A Collier

{"title":"Association analysis of polymorphisms in the DRD4 gene and heroin abuse in Chinese subjects.","authors":"T Li, Z H Zhu, X Liu, X Hu, J Zhao, P C Sham, D A Collier","doi":"10.1002/1096-8628(20001009)96:5<616::aid-ajmg6>3.0.co;2-7","DOIUrl":"https://doi.org/10.1002/1096-8628(20001009)96:5<616::aid-ajmg6>3.0.co;2-7","url":null,"abstract":"Heroin abuse is a major social and public health problem in many parts of the world, yet relatively little is known about its etiology. Although genes play a role in determining susceptibility, they are expected to be of small effect with considerable heterogeneity. Because the dopamine system is involved in reward, its neurotransmitter receptors are candidates for etiological involvement in addiction. In the present study, we examine two polymorphisms in the dopamine D4 receptor, a VNTR in exon III and a point mutation in the promoter (-512C/T) that affects transcriptional efficiency. We examined a sample of 405 heroin-abusing subjects and 304 controls from Sichuan Province, Southwest China. One hundred twenty-one of these cases and 154 controls were previously used in a study of the DRD4 VNTR [Li et al., 1997], and the remainder are newly ascertained. The two polymorphisms were in weak but detectable linkage disequilibrium (1, 418 chromosomes, P < 0.00001, D' = 0.17). When we compared the heroin-abuse group with controls, we found no significant difference between the patients and controls for either polymorphism in the DRD4 gene or their haplotypes. We were also unable to replicate our earlier association between \"long\" DRD4 alleles and heroin abuse. However, division of the sample by route of administration (nasal inhalers or injectors) produced a significant difference between inhalers and controls for the DRD4 VNTR (six-fold corrected P = 0. 018 by allele) but not for injectors of heroin. The association we observed between inhalers and the DRD4 polymorphism is difficult to interpret, although it is possible that the association is explained by different levels of novelty seeking between the two subgroups.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 5","pages":"616-21"},"PeriodicalIF":0.0,"publicationDate":"2000-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001009)96:5<616::aid-ajmg6>3.0.co;2-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21881536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 43