abstract：:Linkage disequilibrium was observed between newly identified DNA polymorphisms and a previously described protein polymorphism for plasminogen. This finding implies that the two types of polymorphisms describe variation at the same locus. The plasminogen gene was mapped to chromosomal bands 6q26-q27 using somatic-cell...

journal_title：American journal of human genetics

authors： Murray JC,Buetow KH,Donovan M,Hornung S,Motulsky AG,Disteche C,Dyer K,Swisshelm K,Anderson J,Giblett E

更新日期：1987-04-01 00:00:00

abstract：:The linkage of polymorphic DNA markers on chromosome 7 to cystic fibrosis (CF) was examined in two pedigrees and a number of smaller nuclear families. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected individuals, while the nuclear families each have two generation...

journal_title：American journal of human genetics

authors： Watkins PC,Schwartz R,Hoffman N,Stanislovitis P,Doherty R,Klinger K

更新日期：1986-12-01 00:00:00

abstract：:We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10 different deletional or nondeletional alpha-thalassemia haplotypes, some of which have been already described in the Medite...

journal_title：American journal of human genetics

authors： Di Rienzo A,Novelletto A,Aliquò MC,Bianco I,Tagarelli A,Brancati C,Colombo B,Felicetti L

更新日期：1986-11-01 00:00:00

abstract：:We have constructed a primary genetic map spanning most of human chromosome 13. A total of 14 polymorphic DNA sequences and one protein polymorphism provided, after construction of haplotypes, seven markers for the long arm of this chromosome. A panel of cell lines from 30 three-generation families with large sibship ...

journal_title：American journal of human genetics

authors： Leppert M,Cavenee W,Callahan P,Holm T,O'Connell P,Thompson K,Lathrop GM,Lalouel JM,White R

更新日期：1986-10-01 00:00:00

abstract：:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and th...

journal_title：American journal of human genetics

authors： Baird M,Balazs I,Giusti A,Miyazaki L,Nicholas L,Wexler K,Kanter E,Glassberg J,Allen F,Rubinstein P

更新日期：1986-10-01 00:00:00

abstract：:Somatic cell hybrids were selected that retain a derivative chromosome 5 from an individual in which the p15.1-pter segment of chromosome 5 is replaced with the p15.1-pter segment of chromosome 4. Hybrids that retain this derivative chromosome exclusively were found to be positive for G8, a DNA marker closely linked t...

journal_title：American journal of human genetics

authors： Wasmuth JJ,Carlock LR,Smith B,Immken LL

更新日期：1986-09-01 00:00:00

abstract：:Genes comprising the major histocompatibility complex (MHC) play a central role in governing the immune response of vertebrates. A great deal of information has been revealed on the molecular biology and physiology of these loci, but three features-the high polymorphism, tight linkage among the loci, and the nonrandom...

journal_title：American journal of human genetics

authors： Klitz W,Thomson G,Baur MP

更新日期：1986-09-01 00:00:00

abstract：:Band 3, the major transmembrane protein of erythrocytes, mediates the exchange of anions across the membrane and anchors the erythroid membrane skeleton. Proteins immunologically related to Band 3 have been detected in a variety of nonerythroid cells. We have isolated a human cDNA clone that encodes a protein related ...

journal_title：American journal of human genetics

authors： Palumbo AP,Isobe M,Huebner K,Shane S,Rovera G,Demuth D,Curtis PJ,Ballantine M,Croce CM,Showe LC

更新日期：1986-09-01 00:00:00

abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

journal_title：American journal of human genetics

authors： Hodge SE,Boehnke M

更新日期：1986-08-01 00:00:00

abstract：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...

journal_title：American journal of human genetics

authors： Simard L,O'Brien WE,McInnes RR

更新日期：1986-07-01 00:00:00

abstract：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...

journal_title：American journal of human genetics

authors： Wong FL,Cantor RM,Rotter JI

更新日期：1986-07-01 00:00:00

abstract：:We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the be...

journal_title：American journal of human genetics

authors： Kazazian HH Jr,Orkin SH,Boehm CD,Goff SC,Wong C,Dowling CE,Newburger PE,Knowlton RG,Brown V,Donis-Keller H

更新日期：1986-06-01 00:00:00

abstract：:Samples of venous blood from 239 male and 476 female adults including 41 pairs of parents and 123 of their children belonging to a Surinam population called the Djuka or Bush Negroes of West African origin were screened for electrophoretic variants of red cell glutathione peroxidase (GPX1) in Cellogel. The results con...

journal_title：American journal of human genetics

authors： Meera Khan P,Verma C,Wijnen LM,Wijnen JT,Prins HK,Nijenhuis LE

更新日期：1986-05-01 00:00:00

abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

journal_title：American journal of human genetics

authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

更新日期：1986-04-01 00:00:00

abstract：:We previously reported the finding of phytosterolemia, xanthomatosis, and hyperapobetalipoproteinemia (hyperapoB) in five siblings in a large Amish pedigree ascertained through a 13-year-old boy who died suddenly from advanced coronary atherosclerosis. Here, we present further analyses of the plasma levels of the plan...

journal_title：American journal of human genetics

authors： Beaty TH,Kwiterovich PO Jr,Khoury MJ,White S,Bachorik PS,Smith HH,Teng B,Sniderman A

更新日期：1986-04-01 00:00:00

abstract：:The highly polymorphic locus D2S3 is revealed by three single-copy probes from cosmid C1-5. These probes, 1-30, 1-32, and 2-96, collectively reveal seven restriction fragment length polymorphisms. Fifty-three of 56 unrelated individuals (93%) were heterozygous at one or more of the seven loci, making the compound locu...

journal_title：American journal of human genetics

authors： Litt M,Bruns GA,Sheehy R,Magenis RE

更新日期：1986-03-01 00:00:00

abstract：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

journal_title：American journal of human genetics

authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

更新日期：1986-01-01 00:00:00

abstract：:A matched case-control study of 100 mothers of Down syndrome children, 100 mothers of children with other defects (defect controls), and 100 mothers of children with no defects (normal controls) was carried out. All infants were born in upstate New York in 1980 and 1981. Matching was very close on maternal age for the...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK

更新日期：1985-11-01 00:00:00

abstract：:The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod scor...

journal_title：American journal of human genetics

authors： Kondo I,Hamaguchi H

更新日期：1985-11-01 00:00:00

abstract：:The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecula...

journal_title：American journal of human genetics

authors： Gualandri V,Franceschini G,Sirtori CR,Gianfranceschi G,Orsini GB,Cerrone A,Menotti A

更新日期：1985-11-01 00:00:00

abstract：:Serum and leukocyte hexosaminidase profiles (total activity and percent heat-labile activity levels) in obligate Sandhoff disease (SHD) heterozygotes differ from those of obligate Tay-Sachs disease (TSD) heterozygotes and noncarrier individuals. We have developed a procedure to identify, with 95% sensitivity, carriers...

journal_title：American journal of human genetics

authors： Cantor RM,Lim JS,Roy C,Kaback MM

更新日期：1985-09-01 00:00:00

abstract：:Cloned genomic DNA sequences corresponding to various regions of the human type II procollagen gene were used to analyze the DNA from 78 normal volunteers. Southern hybridization experiments detected polymorphic HindIII, BamHI, and EcoRI sites. The presence of the polymorphic HindIII site results in a 7.0-kilobase (kb...

journal_title：American journal of human genetics

authors： Eng CE,Strom CM

更新日期：1985-07-01 00:00:00

abstract：:We have demonstrated that human lymphocytes can respond to the synthetic polypeptide GLPhe upon in vitro challenge by the antigen similar to that of (H,G)-A--L, (T,G)-A--L, (Phe,G)-A--L, and GAT. Family studies further support our postulation that responses to these synthetic polymers are under dual gene control. Thre...

journal_title：American journal of human genetics

authors： Chan MM,Bias WB,Hsu SH,Meyers DA

更新日期：1985-05-01 00:00:00

abstract：:gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 ...

journal_title：American journal of human genetics

authors： Bhattacharyya SP,Saha N,Wee KP

更新日期：1985-03-01 00:00:00

abstract：:The cellular mechanism for the expression of the fragile site at Xq28 is unknown. We tested the effect of 5-azacytidine and methionine on fragile X expression in lymphocytes and lymphoblastoid cells in an attempt to determine if DNA methylation was involved. We were unable to demonstrate a consistent dosage effect of ...

journal_title：American journal of human genetics

authors： Abruzzo MA,Mayer M,Jacobs PA

更新日期：1985-01-01 00:00:00

abstract：:Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found...

journal_title：American journal of human genetics

authors： Tsipouras P,Børresen AL,Dickson LA,Berg K,Prockop DJ,Ramirez F

更新日期：1984-11-01 00:00:00

abstract：:The structural gene for the human lysosomal enzyme aspartylglucosaminidase (AGA) has been assigned to chromosome 4 using somatic cell hybridization techniques. The human monomeric enzyme was detected in Chinese hamster-human cell hybrids by a thermal denaturation assay that selectively inactivated the Chinese hamster ...

journal_title：American journal of human genetics

authors： Aula P,Astrin KH,Francke U,Desnick RJ

更新日期：1984-11-01 00:00:00

abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

journal_title：American journal of human genetics

authors： Rich SS,Weitkamp LR,Barbosa J

更新日期：1984-09-01 00:00:00

abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

journal_title：American journal of human genetics

authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

更新日期：1984-07-01 00:00:00

abstract：:Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have no...

journal_title：American journal of human genetics

authors： Seely JR,Seely BL,Bley R Jr,Altmiller CJ

更新日期：1984-07-01 00:00:00

abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

journal_title：American journal of human genetics

authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

更新日期：1984-07-01 00:00:00

abstract：:Our previous studies have revealed a higher frequency of nonpolymorphic electrophoretic variants in blood samples from Amerindians than in similar samples from Caucasians and Japanese. Our present study finds, by contrast, that the frequency of deficiency variants of 11 erythrocyte enzymes, sampled in nine Amerindian ...

journal_title：American journal of human genetics

authors： Mohrenweiser HW,Neel JV

更新日期：1984-05-01 00:00:00

abstract：:The affected sib-pair method has been used to investigate the mode of inheritance, and to estimate the "disease" allele frequency, for a number of HLA-associated diseases. One of the assumptions of the original sib-pair method is that the disease confers no selective disadvantage on affected individuals. This is obvio...

journal_title：American journal of human genetics

authors： Payami H,Thomson G,Louis EJ

更新日期：1984-03-01 00:00:00

abstract：:DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our results indicate that c-Ha-ras-1 is closely linked to both the beta-g...

journal_title：American journal of human genetics

authors： Fearon ER,Antonarakis SE,Meyers DA,Levine MA

更新日期：1984-03-01 00:00:00

abstract：:A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probe...

journal_title：American journal of human genetics

authors： Cavenee W,Leach R,Mohandas T,Pearson P,White R

更新日期：1984-01-01 00:00:00

abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

journal_title：American journal of human genetics

authors： Kammerer CM,MacCluer JW,Bridges JM

更新日期：1984-01-01 00:00:00

abstract：:Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used rec...

journal_title：American journal of human genetics

authors： McGue M,Gottesman II,Rao DC

更新日期：1983-11-01 00:00:00

abstract：:It is generally accepted that the blood group subtypes A1 and A2 expressions are controlled by two different blood group N-acetylgalactosaminyl-transferases, that is, A1-enzyme and A2-enzyme, respectively, and that the two types of enzymes are governed by the allelic A1 and A2 genes. The observed frequencies of blood ...

journal_title：American journal of human genetics

authors： Yoshida A

更新日期：1983-11-01 00:00:00

abstract：:Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high f...

journal_title：American journal of human genetics

authors： Feder J,Migone N,Chang AC,Cochet M,Cohen SN,Cann H,Cavalli-Sforza LL

更新日期：1983-11-01 00:00:00

abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

journal_title：American journal of human genetics

authors： Leslie PW

更新日期：1983-09-01 00:00:00