American Journal of Medical Genetics最新文献_第9页

Localization of SRY by primed in situ labeling in XX and XY sex reversal. 在XX和XY性别逆转中通过引物原位标记定位SRY。

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<71::aid-ajmg14>3.0.co;2-y

J S Kadandale, S S Wachtel, Y Tunca, R S Wilroy, P R Martens, A T Tharapel

{"title":"Localization of SRY by primed in situ labeling in XX and XY sex reversal.","authors":"J S Kadandale, S S Wachtel, Y Tunca, R S Wilroy, P R Martens, A T Tharapel","doi":"10.1002/1096-8628(20001106)95:1<71::aid-ajmg14>3.0.co;2-y","DOIUrl":"https://doi.org/10.1002/1096-8628(20001106)95:1<71::aid-ajmg14>3.0.co;2-y","url":null,"abstract":"Primed in situ labeling (PRINS) can be used to localize DNA segments too small to be detected by fluorescence in situ hybridization. By PRINS we identified the SRY gene in two XX males, a woman with XY gonadal dysgenesis, and an azoospermic male with Xp-Yp interchange. Because PRINS has been used generally in the study of repetitive sequences, we modified the technique for study of the single copy 2. 1-kb SRY sequence. SRY signals were identified at band Yp11.31p11.32 in normal XY males and in the woman with XY gonadal dysgenesis. SRY signals were identified on Xp22 in one XX male but not in the other. They were identified in the corresponding region (Xp22) of the der(X) in the azoospermic male with Xp-Yp interchange. SRY signals were not observed in normal XX females. Presence of SRY in DNA samples from the various subjects was confirmed by polymerase chain reaction. We conclude that PRINS is ideal for rapid localization of single copy genes and small DNA segments in general.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"71-4"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<71::aid-ajmg14>3.0.co;2-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899885","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: 36

Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics. 亚甲基四氢叶酸还原酶和脊柱裂:西班牙裔人缺陷水平和母亲基因型风险的评估。

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

K A Volcik, S H Blanton, G H Tyerman, S T Jong, E J Rott, T Z Page, N K Romaine, H Northrup

{"title":"Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.","authors":"K A Volcik, S H Blanton, G H Tyerman, S T Jong, E J Rott, T Z Page, N K Romaine, H Northrup","doi":"","DOIUrl":"","url":null,"abstract":"The C677T and A1298C mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene are each associated with reduced MTHFR activity. The C677T mutation in the heterozygous and homozygous state correlates with increased enzyme thermolability, with homozygous mutant genotypes showing significantly elevated plasma homocysteine levels and decreased plasma folate levels. The A1298C mutation results in decreased MTHFR activity, but changes in neither homocysteine nor folate levels are associated with A1298C variant genotypes. Our study determined the frequencies of the C677T and A1298C MTHFR mutations for spina bifida (SB) cases, mothers and fathers of SB cases, and controls in Hispanics of Mexican-American descent. In addition, our subject population was further categorized as to whether the spina bifida lesion occurred as an upper or lower level defect, according to the Van Allen \"multi-site closure\" model. Hispanic SB cases with upper level defects and their mothers were homozygous for the C677T variant allele at a higher rate than their respective controls (OR = 1.5 [95% CI 0.8-2.9], P = 0.30; OR = 2.3 [1.1-4.8], P = 0.04, respectively), with statistically significant results seen only for the maternal homozygous genotype. Homozygosity for the A1298C mutation was seen at a higher rate only in Hispanic mothers of both upper and lower level SB cases when compared to controls, but these results were not statistically significant. Our study provides evidence that the maternal C677T MTHFR homozygous mutant genotype is a risk factor for upper level spina bifida defects in Hispanics.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"21-7"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899965","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

Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland. hMSH2基因中的异常RNA剪接:苏格兰西部结直肠癌患者中三种异常RNA的分子鉴定

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<49::aid-ajmg10>3.0.co;2-p

A Davoodi-Semiromi, G W Lanyon, R Davidson, M J Connor

{"title":"Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland.","authors":"A Davoodi-Semiromi, G W Lanyon, R Davidson, M J Connor","doi":"10.1002/1096-8628(20001106)95:1<49::aid-ajmg10>3.0.co;2-p","DOIUrl":"https://doi.org/10.1002/1096-8628(20001106)95:1<49::aid-ajmg10>3.0.co;2-p","url":null,"abstract":"Blood samples from 47 unselected patients with colorectal cancer were used as a source of hMSH2 mRNA. We identified three new hMSH2 aberrant mRNAs including: 1) IVS15 +5 G-->C resulting in exon 15 skipping from transcript; 2) an mRNA deletion of exons 2 to 6 inclusive; and 3) an mRNA deletion of exons 2 to 8 inclusive. In order to find out whether or not exon skipping is a natural consequence of alternative mRNA splicing, total RNA from 20 healthy individuals was converted to cDNA by reverse-transcriptase polymerase chain reaction, and our results show that none of the healthy individuals have the above aberrant mRNA. Our results also show that the presence of mutations in colorectal cancer cases, which do not fully meet the hereditary non-polyposis colon cancer criteria, would suggest that all familial cases should be investigated for germ line mutations in the mismatch repair genes.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"49-52"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<49::aid-ajmg10>3.0.co;2-p","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899969","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: 4

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. 连接蛋白26突变对德系犹太人非综合征性耳聋的贡献以及突变167delT的可变表型效应

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2

I Lerer, M Sagi, E Malamud, H Levi, A Raas-Rothschild, D Abeliovich

{"title":"Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.","authors":"I Lerer, M Sagi, E Malamud, H Levi, A Raas-Rothschild, D Abeliovich","doi":"10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2","DOIUrl":"https://doi.org/10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2","url":null,"abstract":"Twenty-seven unrelated Jewish Ashkenazi patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70.4%); 12 were homozygous for the mutation 167delT, 2 were homozygous for the mutation 35delG, and 5 were compound 167delT/35delG heterozygotes. In addition three patients were heterozygous with no second identified mutation in the Cx26 gene. Biallelic mutations in the Cx26 gene account for 83% of familial cases and 44% of the sporadic cases. Among 268 unselected Ashkenazi individuals, 20 were 167delT/N heterozygotes, giving an estimate of 7.5% carrier frequency. Based on the 167delT carrier frequency in three studies (including the present one), it is expected that 167delT/167delT homozygotes account for 70% of all patients with NSD (1 in 1300). The hearing capacity of 30 patients (probands and their sibs) with biallelic Cx26 mutations and at least one allele with 167delT demonstrated inter- and intrafamilial variability from profound to mild hearing impairment.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"53-6"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899970","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: 83

Plasma cholecystokinin levels in Prader-Willi syndrome and obese subjects. Prader-Willi综合征和肥胖受试者血浆胆囊收缩素水平。

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<67::aid-ajmg13>3.0.co;2-k

M G Butler, M G Carlson, D E Schmidt, I D Feurer, T Thompson

{"title":"Plasma cholecystokinin levels in Prader-Willi syndrome and obese subjects.","authors":"M G Butler, M G Carlson, D E Schmidt, I D Feurer, T Thompson","doi":"10.1002/1096-8628(20001106)95:1<67::aid-ajmg13>3.0.co;2-k","DOIUrl":"https://doi.org/10.1002/1096-8628(20001106)95:1<67::aid-ajmg13>3.0.co;2-k","url":null,"abstract":"The cardinal feature of individuals with Prader-Willi syndrome (PWS) is severe hyperphagia-mediated obesity resulting from a faulty satiety mechanism. PWS is the most common genetic cause of marked obesity. Cholecystokinin (CCK) is a 33-amino-acid peptide found in high levels in the gut and brain involved in mediating the satiety response to meals. Free fatty acids (FFA) are responsible for the stimulation of CCK release after a fatty meal, and CCK and plasma FFA levels rise in tandem in normal individuals. Fasting plasma CCK levels were measured by radio-immunoassay in 33 PWS subjects with a mean age of 22.2 years +/- 8.1 years and 24 obese control subjects without a known cause of their obesity with a mean age of 28.7 years +/- 12.9 years. Consistent with previous findings, neither fasting plasma FFA levels (617.5 versus 486.8 microm/mL) or CCK levels (21.0 versus 19.1 pg/mL) were significantly different in PWS or control subjects, respectively. However, there was a significant correlation between fasting plasma FFA and CCK levels in obese subjects (r = 0. 64, P < 0.01), this correlation was completely lacking in PWS subjects (r = -0.06, P = 0.79). This difference in correlation coefficients constitutes a large effect. There were no significant effects observed for genetic subtypes (15q11-q13 deletion or maternal disomy 15), body mass index, percentage of fat, plasma levels of insulin, C-peptide, glucagon or leptin, age, or gender on CCK levels in our PWS subjects. These results suggest that differences in the peripheral CCK response to FFA levels may be a factor contributing to the altered satiety response in PWS subjects.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"67-70"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<67::aid-ajmg13>3.0.co;2-k","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 31

Inherited infantile dilated cardiomyopathy in dogs: genetic, clinical, biochemical, and morphologic findings. 犬的遗传性婴儿扩张型心肌病:遗传、临床、生化和形态学的发现。

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

J Alroy, J E Rush, L Freeman, M S Amarendhra Kumar, A Karuri, K Chase, S Sarkar

{"title":"Inherited infantile dilated cardiomyopathy in dogs: genetic, clinical, biochemical, and morphologic findings.","authors":"J Alroy, J E Rush, L Freeman, M S Amarendhra Kumar, A Karuri, K Chase, S Sarkar","doi":"","DOIUrl":"","url":null,"abstract":"Dilated cardiomyopathy, a lethal disease characterized by left ventricular dilation and systolic dysfunction, is relatively common in humans and other mammals. Idiopathic dilated cardiomyopathy (IDCM) is a primary myocardial disease of unknown cause and can be a familial disorder. This report describes autosomal recessive IDCM in dogs. It occurs in Portuguese Water Dog (PWD) pups and is manifested by acute, vague clinical signs and sudden death. Affected pups have progressive reduction of fractional shortening that can be demonstrated by echocardiography prior to the development of clinical signs. Furthermore, these pups have low plasma taurine levels when consuming certain diets. Affected pups had dilation of the left ventricle and alterations in the sarcomere appearance, while immunohistochemical and biochemical studies demonstrate an increase in desmin, a cytoskeleton protein. The clinical and morphologic findings of IDCM in PWDs are distinct from those reported in adult IDCM. Finally, the clinical and echocardiographic manifestations were reversible in some pups following oral taurine supplementation for 2 months. These results suggest that IDCM in PWDs is correlated with low plasma taurine levels.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"57-66"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899971","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

Pallister-Killian syndrome: case report with pineal tumor. 姑息-基利安综合征伴松果体肿瘤1例。

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j

L Mauceri, G Sorge, G Incorpora, L Pavone

引用次数: 15

Three novel mutations of the proto-oncogene KIT cause human piebaldism. 原癌基因KIT的三个新突变导致人类斑疹病。

American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<79::aid-ajmg16>3.0.co;2-4

P Syrris, N M Malik, V A Murday, M A Patton, N D Carter, H E Hughes, K Metcalfe

引用次数: 16

Familial hypomelanosis of ito: implications for genetic counselling. 伊藤家族性低黑素症:遗传咨询的意义。

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

M Ruggieri