abstract：:The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS...

journal_title：American journal of human genetics

authors： Biancalana V,Briard ML,David A,Gilgenkrantz S,Kaplan J,Mathieu M,Piussan C,Poncin J,Schinzel A,Oudet C

更新日期：1992-05-01 00:00:00

abstract：:Linkage analyses were performed in 11 families with X-linked Menkes disease. In each family more than one affected patient had been diagnosed. Forty informative meioses were tested using 11 polymorphic DNA markers. From two-point linkage analyses high lod scores are seen for DXS146 (pTAK-8; maximal lod score 3.16 at r...

journal_title：American journal of human genetics

authors： Tønnesen T,Petterson A,Kruse TA,Gerdes AM,Horn N

更新日期：1992-05-01 00:00:00

abstract：:Allele and genotype frequencies for the highly polymorphic D1S80 locus were determined in a Finnish population sample by using PCR followed by high-resolution PAGE and silver staining, a procedure called the amplified-fragment-length polymorphism (Amp-FLP) technique. In 140 unrelated Finnish individuals 15 alleles and...

journal_title：American journal of human genetics

authors： Sajantila A,Budowle B,Ström M,Johnsson V,Lukka M,Peltonen L,Ehnholm C

更新日期：1992-04-01 00:00:00

abstract：:The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the N...

journal_title：American journal of human genetics

authors： Shields GF,Hecker K,Voevoda MI,Reed JK

更新日期：1992-04-01 00:00:00

abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

journal_title：American journal of human genetics

authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

更新日期：1992-03-01 00:00:00

abstract：:Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive modifying gene in the affected parent. The observed proportion of affected fathers to affected mothers who had such offspring w...

journal_title：American journal of human genetics

authors： Ridley RM,Farrer LA,Frith CD,Conneally PM

更新日期：1992-03-01 00:00:00

abstract：:A total of 752 individuals from The Gambia, west Africa who are representative of the major ethnic groups in the capital, Banjul, were serologically typed for HLA-A, -B, and -C antigens. Although all were typically "African" in their antigenic profiles, some marked frequency differences were found between the ethnic g...

journal_title：American journal of human genetics

authors： Allsopp CE,Harding RM,Taylor C,Bunce M,Kwiatkowski D,Anstey N,Brewster D,McMichael AJ,Greenwood BM,Hill AV

更新日期：1992-02-01 00:00:00

abstract：:We have isolated 68 new RFLP markers on human chromosome 6. Of these, 64 were localized on chromosomal bands by the fluorescent in-situ hybridization (FISH) method, 25 on the short arm and 39 on the long arm. Their distribution was uneven; the markers were localized predominantly in regions of R-positive banding. Elev...

journal_title：American journal of human genetics

authors： Saito S,Okui K,Tokino T,Oshimura M,Nakamura Y

更新日期：1992-01-01 00:00:00

abstract：:A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

journal_title：American journal of human genetics

authors： Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

更新日期：1992-01-01 00:00:00

abstract：:Apolipoprotein J (apo J) is a newly identified member of a growing family of proteins associated with various lipoprotein particles. Apo J is a glycoprotein which exists in the plasma associated with high-density lipoprotein subfractions which also contain apo A-I and cholesteryl ester transfer protein (CETP). We have...

journal_title：American journal of human genetics

authors： Kamboh MI,Harmony JA,Sepehrnia B,Nwankwo M,Ferrell RE

更新日期：1991-12-01 00:00:00

abstract：:The long-QT syndrome (LQT; Ward-Romano syndrome) is a cardiac disorder that is inherited as an autosomal dominant trait. Affected family members suffer from recurrent syncope and sudden death due to ventricular arrhythmias. Recently, we identified a DNA marker on the short arm of chromosome 11 (the Harvey ras-1 locus ...

journal_title：American journal of human genetics

authors： Keating M,Dunn C,Atkinson D,Timothy K,Vincent GM,Leppert M

更新日期：1991-12-01 00:00:00

abstract：:Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of...

journal_title：American journal of human genetics

authors： Brooks CC,Buist N,Tuerck J,Tolan DR

更新日期：1991-11-01 00:00:00

abstract：:To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted het...

journal_title：American journal of human genetics

authors： Clemens PR,Fenwick RG,Chamberlain JS,Gibbs RA,de Andrade M,Chakraborty R,Caskey CT

更新日期：1991-11-01 00:00:00

abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

journal_title：American journal of human genetics

authors： Ryynänen M,Knowlton RG,Uitto J

更新日期：1991-11-01 00:00:00

abstract：:Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in night blindness, visual field loss, an abnormal electroretinogram, and characteristic retinal pigmentary changes. An important step in the understanding of RP has been the recognition that some...

journal_title：American journal of human genetics

authors： Sheffield VC,Fishman GA,Beck JS,Kimura AE,Stone EM

更新日期：1991-10-01 00:00:00

abstract：:Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undetectable enzymatic a...

journal_title：American journal of human genetics

authors： Reichardt JK,Packman S,Woo SL

更新日期：1991-10-01 00:00:00

abstract：:A novel type IV collagen, alpha 3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha 3(IV) chain. Of interest is the possible role of abnormalities of the alpha 3(IV) chain in Alport ...

journal_title：American journal of human genetics

authors： Morrison KE,Mariyama M,Yang-Feng TL,Reeders ST

更新日期：1991-09-01 00:00:00

abstract：:Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, Ta...

journal_title：American journal of human genetics

authors： Graham JB,Kunkel GR,Egilmez NK,Wallmark A,Fowlkes DM,Lord ST

更新日期：1991-09-01 00:00:00

abstract：:We tested 519 chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restric...

journal_title：American journal of human genetics

authors： Golembieski WA,Smith SE,Recchia F,Judge A,Shridhar V,Miller OJ,Drabkin H,Smith DI

更新日期：1991-09-01 00:00:00

abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

journal_title：American journal of human genetics

authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

更新日期：1991-09-01 00:00:00

abstract：:To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value...

journal_title：American journal of human genetics

authors： Sherman SL,Takaesu N,Freeman SB,Grantham M,Phillips C,Blackston RD,Jacobs PA,Cockwell AE,Freeman V,Uchida I

更新日期：1991-09-01 00:00:00

abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

journal_title：American journal of human genetics

authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

更新日期：1991-08-01 00:00:00

abstract：:Monoamine oxidase (MAO) is a critical enzyme in the degradative deamination of biogenic amines throughout the body. Two biochemically distinct forms of the enzyme, A and B, are encoded in separate genes on the human X chromosome. In these studies we investigated the role of the structural gene for MAO-A in determining...

journal_title：American journal of human genetics

authors： Hotamisligil GS,Breakefield XO

更新日期：1991-08-01 00:00:00

abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

journal_title：American journal of human genetics

authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

更新日期：1991-08-01 00:00:00

abstract：:Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we hav...

journal_title：American journal of human genetics

authors： Ptacek LJ,Tyler F,Trimmer JS,Agnew WS,Leppert M

更新日期：1991-08-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in I...

journal_title：American journal of human genetics

authors： Meiner V,Landsberger D,Berkman N,Reshef A,Segal P,Seftel HC,van der Westhuyzen DR,Jeenah MS,Coetzee GA,Leitersdorf E

更新日期：1991-08-01 00:00:00

abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

journal_title：American journal of human genetics

authors： Bodurtha J,Spence JE,Stevens CA

更新日期：1991-08-01 00:00:00

abstract：:Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidos...

journal_title：American journal of human genetics

authors： Jacobson DR,Reveille JD,Buxbaum JN

更新日期：1991-07-01 00:00:00

abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstr...

journal_title：American journal of human genetics

authors： Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

更新日期：1991-07-01 00:00:00

abstract：:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus...

journal_title：American journal of human genetics

authors： Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

更新日期：1991-06-01 00:00:00

abstract：:An elevated level of erythrocyte sodium-lithium (Na-Li) countertransport has been suggested as a predictor of predisposition to essential hypertension. In order to evaluate whether a single genetic or environmental factor with large effects explains the mixture of distributions in Na-Li countertransport in the general...

journal_title：American journal of human genetics

authors： Rebbeck TR,Turner ST,Michels VV,Moll PP

更新日期：1991-06-01 00:00:00

abstract：:The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit st...

journal_title：American journal of human genetics

authors： Slipetz DM,Goodyer PR,Rozen R

更新日期：1991-06-01 00:00:00

abstract：:One approach frequently used for identifying genetic factors involved in the process of a complex disease is the comparison of patients and controls for a number of genetic markers near a candidate gene. The analysis of such association studies raises some specific problems because of the fact that genotypic and not g...

journal_title：American journal of human genetics

authors： Tiret L,Amouyel P,Rakotovao R,Cambien F,Ducimetière P

更新日期：1991-05-01 00:00:00

abstract：:A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hy...

journal_title：American journal of human genetics

authors： Saraiva MJ,Almeida MR,Alves IL,Moreira P,Gawinowicz M,Costa PP,Rauh S,Banhzoff A,Altland K

更新日期：1991-05-01 00:00:00

abstract：:The debrisoquine/sparteine polymorphism is associated with a clinically important genetic deficiency of oxidative drug metabolism. From 5% to 10% of Caucasians designated as poor metabolizers (PMs) of the debrisoquine/sparteine polymorphism have a severely impaired capacity to metabolize more than 25 therapeutically u...

journal_title：American journal of human genetics

authors： Gaedigk A,Blum M,Gaedigk R,Eichelbaum M,Meyer UA

更新日期：1991-05-01 00:00:00

abstract：:Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chro...

journal_title：American journal of human genetics

authors： Callen DF,Eyre HJ,Ringenbergs ML,Freemantle CJ,Woodroffe P,Haan EA

更新日期：1991-04-01 00:00:00

abstract：:Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. I...

journal_title：American journal of human genetics

authors： Bottaro A,Cariota U,DeMarchi M,Carbonara AO

更新日期：1991-04-01 00:00:00

abstract：:To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultaneously screen for n...

journal_title：American journal of human genetics

authors： Dianzani I,Forrest SM,Camaschella C,Saglio G,Ponzone A,Cotton RG

更新日期：1991-03-01 00:00:00

abstract：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

更新日期：1991-03-01 00:00:00

abstract：:Four subjects with thermolabile methylenetetrahydrofolate reductase (MTHFR) were discovered among 16 "obligate" heterozygotes for severe MTHFR deficiency and their family members. All four subjects had less than 25% of normal mean MTHFR specific activity in lymphocyte extracts. Three of them with normal serum folate a...

journal_title：American journal of human genetics

authors： Kang SS,Wong PW,Bock HG,Horwitz A,Grix A

更新日期：1991-03-01 00:00:00