abstract：:The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second si...

journal_title：American journal of human genetics

authors： Patterson M,Gitschier J,Bloomfield J,Bell M,Dorkins H,Froster-Iskenius U,Sommer S,Sobell J,Schaid D,Thibodeau S

更新日期：1989-05-01 00:00:00

abstract：:Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....

journal_title：American journal of human genetics

authors： Pellestor F,Sèle B,Jalbert H,Jalbert P

更新日期：1989-04-01 00:00:00

abstract：:We describe a new user-intense-learning experience that incorporates the teaching of clinical and research applications of human genetics in biochemistry while training first-year medical students to develop skills in computer access to the literature. Human genetics was incorporated into the biochemistry curriculum b...

journal_title：American journal of human genetics

authors： Proud VK,Schmidt FJ,Johnson ED,Mitchell JA

更新日期：1989-04-01 00:00:00

abstract：:We screened DNA from unrelated individuals for RFLPs in the muscle nicotinic acetylcholine receptor (AcChoR) genes. These RFLP markers can be used for genetic linkage and association studies to test the hypothesis that receptor structure or regulation is involved in the development of myasthenia gravis (MG). The cDNAs...

journal_title：American journal of human genetics

authors： Lobos EA,Rudnick CH,Watson MS,Isenberg KE

更新日期：1989-04-01 00:00:00

abstract：:The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine aminotransferase (OAT) deficiency, to elucidate the mechanism of response to pyridoxine in four pyridoxine-responsive patients, and to determine the extent of genetic...

journal_title：American journal of human genetics

authors： Kennaway NG,Stankova L,Wirtz MK,Weleber RG

更新日期：1989-03-01 00:00:00

abstract：:A patient with lactic acidosis showed a lowered pyruvate dehydrogenase E1 activity and fatigued on slight exercise. The cDNA encoding the pyruvate dehydrogenase E1 alpha-subunit from his lymphocytes, transformed by infection of Epstein-Barr virus, was cloned and sequenced. The nucleotide sequence determination reveale...

journal_title：American journal of human genetics

authors： Endo H,Hasegawa K,Narisawa K,Tada K,Kagawa Y,Ohta S

更新日期：1989-03-01 00:00:00

abstract：:Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 ...

journal_title：American journal of human genetics

authors： Brown BI,Brown DH

更新日期：1989-03-01 00:00:00

abstract：:The Lowe syndrome (LS), or oculocerebrorenal syndrome, has been studied using DNA-based linkage analysis, and the findings have been correlated with the result of a thorough ophthalmologic examination. It was found that the LS gene was linked to markers in the Xq24-q26 region and that the locus DXS42 was the most clos...

journal_title：American journal of human genetics

authors： Wadelius C,Fagerholm P,Pettersson U,Annerén G

更新日期：1989-02-01 00:00:00

abstract：:The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a com...

journal_title：American journal of human genetics

authors： MacKenzie AE,MacLeod HL,Hunter AG,Korneluk RG

更新日期：1989-01-01 00:00:00

abstract：:Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of ...

journal_title：American journal of human genetics

authors： Mathew CG,Thorpe K,Easton DF,Chin KS,Jadayel D,Ponder M,Moore G,Wallis CE,Slater CP,De Jong G

更新日期：1989-01-01 00:00:00

abstract：:Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These ...

journal_title：American journal of human genetics

authors： Shih VE,Mandell R,Berson EL

更新日期：1988-12-01 00:00:00

abstract：:Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...

journal_title：American journal of human genetics

authors： Nakamura Y,Carlson M,Krapcho K,Kanamori M,White R

更新日期：1988-12-01 00:00:00

abstract：:Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a molecular dissection of the cri...

journal_title：American journal of human genetics

authors： vanTuinen P,Dobyns WB,Rich DC,Summers KM,Robinson TJ,Nakamura Y,Ledbetter DH

更新日期：1988-11-01 00:00:00

abstract：:The distribution of HLA antigens in a sample of 124 Chagas serologically positive Chilean individuals was studied. The sample was subdivided according to the presence or absence of chagasic cardiomyopathy, in order to search for genetic differences associated with this pathological condition. The frequency of antigen ...

journal_title：American journal of human genetics

authors： Llop E,Rothhammer F,Acuña M,Apt W

更新日期：1988-11-01 00:00:00

abstract：:Age at onset of motor symptoms was collected on 611 persons affected with Huntington disease (HD) among 3,201 persons "at risk" in 108 kindreds. Life-table estimates correcting for truncated intervals of observation (censoring) produced a median age at onset 5 years older than the observed mean. Risk estimates of HD o...

journal_title：American journal of human genetics

authors： Adams P,Falek A,Arnold J

更新日期：1988-11-01 00:00:00

abstract：:The ascertainment problem arises when families are sampled by a nonrandom process and some assumption about this sampling process must be made in order to estimate genetic parameters. Under classical ascertainment assumptions, estimation of genetic parameters cannot be separated from estimation of the parameters of th...

journal_title：American journal of human genetics

authors： Shute NC,Ewens WJ

更新日期：1988-10-01 00:00:00

abstract：:The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetic...

journal_title：American journal of human genetics

authors： Forsman I

更新日期：1988-10-01 00:00:00

abstract：:Chromosomal aneuploidy is usually identified by cytogenetic methods. However, for some purposes it would be desirable to have an easier method of recognizing specific trisomies or monosomies. We have devised such an assay. It involves the simultaneous hybridization of two chromosome-specific DNA probes labeled with di...

journal_title：American journal of human genetics

authors： Dahl HH,Choo KH,Danks DM

更新日期：1988-10-01 00:00:00

abstract：:Alpha-globin gene cluster haplotypes were determined in Southern African San and negroid populations. Significant differences (P less than .01) between the two groups were found at three of the nine loci in the cluster. The most striking difference, however, was the relatively low level of variation found in the San (...

journal_title：American journal of human genetics

authors： Ramsay M,Jenkins T

更新日期：1988-10-01 00:00:00

abstract：:Quantitative predictions of rates of Down syndrome offspring as a function of maternal serum alpha-fetoprotein (MSAFP) values and of maternal age were reviewed. Comparisons were made of 35-year-equivalent-risk values by maternal age, that is, MSAFP values (at various maternal ages) that predict the risk (of a Down syn...

journal_title：American journal of human genetics

authors： Hook EB

更新日期：1988-08-01 00:00:00

abstract：:A genetical model is found to provide a good fit to family data on vitiligo. The model postulates that recessive alleles at a set of four unlinked diallelic loci are involved in the causation of the disorder. Under this multiple recessive homozygosis model, for normal X affected families ascertained through the affect...

journal_title：American journal of human genetics

authors： Majumder PP,Das SK,Li CC

更新日期：1988-08-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

journal_title：American journal of human genetics

authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

更新日期：1988-08-01 00:00:00

abstract：:A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiolog...

journal_title：American journal of human genetics

authors： Ramsay M,Bernstein R,Zwane E,Page DC,Jenkins T

更新日期：1988-07-01 00:00:00

abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

更新日期：1988-06-01 00:00:00

abstract：:Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human ...

journal_title：American journal of human genetics

authors： Ledley FD,Lumetta MR,Zoghbi HY,VanTuinen P,Ledbetter SA,Ledbetter DH

更新日期：1988-06-01 00:00:00

abstract：:Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...

journal_title：American journal of human genetics

authors： Board PG,Chapple R,Coggan M

更新日期：1988-05-01 00:00:00

abstract：:The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individual...

journal_title：American journal of human genetics

authors： Baird PA,Anderson TW,Newcombe HB,Lowry RB

更新日期：1988-05-01 00:00:00

abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

journal_title：American journal of human genetics

authors： Hassold T,Benham F,Leppert M

更新日期：1988-04-01 00:00:00

abstract：:One of the human urinary ribonucleases (RNases) was isolated and purified to homogeneity (SDS-PAGE) by means of a series of column chromatographies. The enzyme, designated RNase 1, is a glycoprotein with a molecular weight of approximately 16,000. Rabbit antibody to the purified RNase 1 reacted with human urine and se...

journal_title：American journal of human genetics

authors： Yasuda T,Sato W,Mizuta K,Kishi K

更新日期：1988-04-01 00:00:00

abstract：:Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombinat...

journal_title：American journal of human genetics

authors： Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirschner N,Schwartz C,Nguyen K,Skolnick M

更新日期：1988-02-01 00:00:00

abstract：:To resolve uncertainty concerning the inheritance of the perinatal lethal form of osteogenesis imperfecta (OI type II), we collected family data and radiographs for 71 probands and analyzed the collagens synthesized by dermal fibroblastic cells cultured from 43 of the probands, 19 parental pairs, and single parents of...

journal_title：American journal of human genetics

authors： Byers PH,Tsipouras P,Bonadio JF,Starman BJ,Schwartz RC

更新日期：1988-02-01 00:00:00

abstract：:The genetic map in the region of human chromosome 7 that harbors the gene for cystic fibrosis (CF) has been refined by multilocus linkage studies in an expanded database including a large set of normal families. Six loci known to be linked to CF were examined: MET, an oncogene; COL1A2, collagen, TCRB, T-cell-receptor ...

journal_title：American journal of human genetics

authors： Lathrop GM,Farrall M,O'Connell P,Wainwright B,Leppert M,Nakamura Y,Lench N,Kruyer H,Dean M,Park M

更新日期：1988-01-01 00:00:00

abstract：:On the basis of the known amino acid sequence of statherin, a human salivary protein, mixed synthetic oligonucleotides were synthesized and used to screen a cDNA library constructed from human parotid-gland mRNA. A cDNA clone coding for statherin was isolated from this library and has been completely sequenced. The cD...

journal_title：American journal of human genetics

authors： Sabatini LM,Carlock LR,Johnson GW,Azen EA

更新日期：1987-12-01 00:00:00

abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...

journal_title：American journal of human genetics

authors： Griffin CA,Smith M,Henthorn PS,Harris H,Weiss MJ,Raducha M,Emanuel BS

更新日期：1987-12-01 00:00:00

abstract：:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the othe...

journal_title：American journal of human genetics

authors： Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

更新日期：1987-12-01 00:00:00

abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

journal_title：American journal of human genetics

authors： Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

更新日期：1987-10-01 00:00:00

abstract：:At least two spontaneous abortions were karyotyped in 273 women during cytogenetic surveys in New York City and Honolulu. These pairs were analyzed using maximum-likelihood logistic-regression analysis to adjust for maternal age and location. There was a significantly increased risk for a chromosomally normal spontane...

journal_title：American journal of human genetics

authors： Warburton D,Kline J,Stein Z,Hutzler M,Chin A,Hassold T

更新日期：1987-09-01 00:00:00

abstract：:Restriction-fragment-length-polymorphism analysis was used to examine a female who is segregating for Duchenne muscular dystrophy (DMD) and a deletion of the DXS164 region of the X chromosome. The segregating female has no prior family history of DMD, and she has two copies of the DXS164 region in her peripheral blood...

journal_title：American journal of human genetics

authors： Lanman JT Jr,Pericak-Vance MA,Bartlett RJ,Chen JC,Yamaoka L,Koh J,Speer MC,Hung WY,Roses AD

更新日期：1987-08-01 00:00:00

abstract：:We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. ...

journal_title：American journal of human genetics

authors： Driscoll MC,Lerner N,Anyane-Yeboa K,Maidman J,Warburton D,Schaefer-Rego K,Hsu R,Ince C,Malin J,Pallai M

更新日期：1987-06-01 00:00:00

abstract：:The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential). We compared developmental outcomes and medical histories of 21 Hartnup subjects, identified through newborn screening, with those of 19...

journal_title：American journal of human genetics

authors： Scriver CR,Mahon B,Levy HL,Clow CL,Reade TM,Kronick J,Lemieux B,Laberge C

更新日期：1987-05-01 00:00:00