abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

journal_title：American journal of human genetics

authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

更新日期：1978-05-01 00:00:00

abstract：:A convenient and reliable method for simulatneous visualization of silver staining (Ag-NOR) of the nucleolus organizers and fluorescent bandings in metaphase chromosomes is described. Studies employing this combined procedure on human chromosomes revealed that the Ag-NOR patterns may be characteristic for each chromos...

journal_title：American journal of human genetics

authors： Lau YF,Pfeiffer RA,Arrighi FE,Hsu TC

更新日期：1978-01-01 00:00:00

abstract：:Esterase D (EsD), purified from human erythrocytes and tested with a variety of substrates, hydrolyzed only triacetin, tributyrin, and certain soluble aryl esters of aliphatic acids. Esters of 4-methylumbelliferone were easily the best substrates. When the three genetically different isozymes were compared, the less c...

journal_title：American journal of human genetics

authors： Scott EM,Wright RC

更新日期：1978-01-01 00:00:00

abstract：:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found tw...

journal_title：American journal of human genetics

authors： Lowden JA,Ives EJ,Keene DL,Burton AL,Skomorowski MA,Howard F

更新日期：1978-01-01 00:00:00

abstract：:Increased concentrations of total sulfated mucopolysaccharides (MPS), threefold, and hyaluronic acid (HA), 10-fold, were found in ML IV fibroblast extracts when compared to normal controls. Such accumulations altered the distribution of MPS:HA comprised 70% of total MPS in ML IV but only 30% in control cells. Intracel...

journal_title：American journal of human genetics

authors： Bach G,Ziegler M,Kohn G,Cohen MM

更新日期：1977-11-01 00:00:00

abstract：:A novel technique for detecting electrophoretic and quantitative variants of group-specific component (Gc) proteins is described. The technique, in vitro labeling with radioactive vitamin D followed by polyacrylamide gel electrophoresis and autoradiography (PAGE autoradiography), permits sensitive, high resolution det...

journal_title：American journal of human genetics

authors： Daiger SP,Cavalli-Sforza LL

更新日期：1977-11-01 00:00:00

abstract：:A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since ...

journal_title：American journal of human genetics

authors： Spence MA,Sparkes RS,Heckenlively JR,Pearlman JT,Zedalis D,Sparkes M,Crist M,Tideman S

更新日期：1977-07-01 00:00:00

abstract：:Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. ...

journal_title：American journal of human genetics

authors： Rahimi AG,Goedde HW,Flatz G,Kaifie S,Benkmann HG,Delbrück H

更新日期：1977-07-01 00:00:00

abstract：:Electrophoretic properties of eight lysosomal hydrolases and 36 nonlysosomal enzymes were investigated in cultured fibroblasts from children with the inherited storage disease mucolipidosis II (ML II); fibroblasts from a child with a related disorder, mucolipidosis III (ML III); and two obligate heterozygous cell line...

journal_title：American journal of human genetics

authors： Champion MJ,Shows TB

更新日期：1977-03-01 00:00:00

abstract：:A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...

journal_title：American journal of human genetics

authors： Daly RF,Patau K,Therman E,Sarto GE

更新日期：1977-01-01 00:00:00

abstract：:A highly-educated, socially aware group of persons presented themselves for Tay-Sachs screening having learned about it mainly from friends, newspapers, radio, and television but not from physicians or rabbis. After learning that screening was possible and deciding that it is in principle a good idea, and after discus...

journal_title：American journal of human genetics

authors： Childs B,Gordis L,Kaback MM,Kazazian HH Jr

更新日期：1976-11-01 00:00:00

abstract：:The problem considered is that of estimating the age or rate of increase of a variant on the basis of the present number of replicates observed in a population. In place of previous diffusion equation analyses of age probability distributions, the likelihood for the age is studied on the basis of a discrete branching ...

journal_title：American journal of human genetics

authors： Thompson EA

更新日期：1976-09-01 00:00:00

abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

journal_title：American journal of human genetics

authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

更新日期：1976-07-01 00:00:00

abstract：:Eleven normal families with at least four children were studied cytogenetically using the C-band technique to identify polymorphisms in the constitutive heterochromatin of chromosomes 1, 9 and 16. Thirteen individuals showed one or more variants in such chromosomes. The analysis of the segregation ratios in the 35 off...

journal_title：American journal of human genetics

authors： Carnevale A,Ibañez BB,del Castillo V

更新日期：1976-07-01 00:00:00

abstract：:The genetically inactive, late-replicating human female X chromosome can be effectively distinguished from its more active, earlier-replicating homologue, when cells are grown according to the appropriate BrdU-33258 Hoechst protocol. Results obtained from a fluorescence analysis of DNA replication in X chromosomes are...

journal_title：American journal of human genetics

authors： Willard HF,Latt SA

更新日期：1976-05-01 00:00:00

abstract：:Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. A...

journal_title：American journal of human genetics

authors： Lefranc G,Rivat L,Rivat C,Loiselet J,Ropartz C

更新日期：1976-01-01 00:00:00

abstract：:The residual beta-D-galactosidase activity (10% of normal) present in an autopsy sample of liver derived from an I-cell patient has been characterized. The pH optima for both I-cell and normal acid 4-methylumbelliferyl beta-D-galactoside activities were 4.35. The adsorption and elution profiles of the I-cell enzyme fr...

journal_title：American journal of human genetics

authors： Holmes EW,Miller AL,Frost RG,O'Brien JS

更新日期：1975-11-01 00:00:00

abstract：:Electrophoretic and quantitative studies reveal that 85% of Japanese carry an atypical liver alcohol dehydrogenase (ADH). The frequency of ADH polymorphism is identical with the reported frequency of alcohol sensitivity in the Japanese population. This identity in population frequencies points to a causative relations...

journal_title：American journal of human genetics

authors： Stamatoyannopoulos G,Chen SH,Fukui M

更新日期：1975-11-01 00:00:00

abstract：:Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the h...

journal_title：American journal of human genetics

authors： Hamerton JL,Mohandas T,McAlpine J

更新日期：1975-09-01 00:00:00

abstract：:A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases wer...

journal_title：American journal of human genetics

authors： Freire-Maia A,Freire-Maia N,Morton NE,Azevêdo ES,Quelce-Salgado A

更新日期：1975-07-01 00:00:00

abstract：:The mean and standard deviation of the first arrival time for a single mutant to reach a certain frequency and the mean age of a mutant persisting in a population have been studied using diffusion methods. These quantities are shown to be highly dependent on both the heterozygous effect and the population size. For pa...

journal_title：American journal of human genetics

authors： Li WH

更新日期：1975-05-01 00:00:00

abstract：:Chiasma frequency data on 183 males were subjected to an analysis of covariance. There appeared to be little or no linear trend in chiasma frequency with age. This conclusion was supported by a detailed analysis of chiasma frequencies for each autosome from 21 males. There were, however, significant differences among ...

journal_title：American journal of human genetics

authors： Lange K,Page BM,Elston RC

更新日期：1975-05-01 00:00:00

abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

journal_title：American journal of human genetics

authors： Craig-Holmes AP,Moore FB,Shaw MW

更新日期：1975-03-01 00:00:00

abstract：:Permanent teeth of 12 individuals with a 47,XYY chromosome constitution have been examined. The tooth sizes of 47,XYY males were found to be larger than those of control males and females. In many instances the differences were statistically significant. Using these results, it was possible to conclude that a factor ...

journal_title：American journal of human genetics

authors： Alvesalo L,Osborne RH,Kari M

更新日期：1975-01-01 00:00:00