Polymorphism in the 3' untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes.

abstract：:Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which ...

journal_title：Human genetics

authors： Grønskov K,Olsen JH,Sand A,Pedersen W,Carlsen N,Bak Jylling AM,Lyngbye T,Brøndum-Nielsen K,Rosenberg T

更新日期：2001-07-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:High-risk mucosal human papillomaviruses encode an E6 oncoprotein, which binds the cellular p53 tumor suppressor protein, thereby marking it for degradation through the ubiquitin-mediated pathway. A common p53 polymorphism at codon-72 of exon 4 results in translation to either arginine or proline. Recently reported da...

journal_title：Human genetics

authors： Tachezy R,Mikysková I,Saláková M,Van Ranst M

更新日期：1999-12-01 00:00:00

abstract：:Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and...

journal_title：Human genetics

authors： Kuliev AM,Grinberg KN,Kukharenko VI,Kulazenko VP,Bogomazov EA

更新日期：1977-09-22 00:00:00

abstract：:Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...

journal_title：Human genetics

authors： Shabtai F,Orlin J,Hart J,Halbrecht I,Klar D,Friedman J

更新日期：1986-09-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...

journal_title：Human genetics

authors： Konecki DS,Schlotter M,Trefz FK,Lichter-Konecki U

更新日期：1991-08-01 00:00:00

abstract：:The gene encoding the alpha-subunit of the human platelet-derived growth factor receptor (PDGFRA) maps to band q11-q12 of chromosome 4 by in situ hybridization, which was confirmed by Southern analysis of a Chinese hamster x human cell hybrid that retains only human chromosome 4. ...

journal_title：Human genetics

authors： Gronwald RG,Adler DA,Kelly JD,Disteche CM,Bowen-Pope DF

更新日期：1990-08-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies in...

journal_title：Human genetics

authors： Rivas F,Rivera H,Plascencia ML,Ibarra B,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:Sarcoidosis is known to be a systemic granulomatous disorder characterized by a cell-mediated Th1-type inflammatory response. To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, ...

journal_title：Human genetics

authors： Akahoshi M,Ishihara M,Remus N,Uno K,Miyake K,Hirota T,Nakashima K,Matsuda A,Kanda M,Enomoto T,Ohno S,Nakashima H,Casanova JL,Hopkin JM,Tamari M,Mao XQ,Shirakawa T

更新日期：2004-04-01 00:00:00

abstract：:The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...

journal_title：Human genetics

authors： Rohlfs EM,Chung CH,Yang Q,Skrzynia C,Grody WW,Graham ML,Silverman LM

更新日期：2000-10-01 00:00:00

abstract：:rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...

journal_title：Human genetics

authors： de Capoa A,Marlekaj P,Baldini A,Rocchi M,Archidiacono N

更新日期：1985-01-01 00:00:00

abstract：:Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...

journal_title：Human genetics

authors： Dixit H,Rao LK,Padmalatha VV,Kanakavalli M,Deenadayal M,Gupta N,Chakrabarty B,Singh L

更新日期：2006-05-01 00:00:00

abstract：:Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...

journal_title：Human genetics

authors： Tomatsu S,Fukuda S,Cooper A,Wraith JE,Uchiyama A,Hori T,Nakashima Y,Yamada N,Sukegawa K,Kondo N

更新日期：1995-04-01 00:00:00

abstract：:The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The ...

journal_title：Human genetics

authors： Roth MP,Feingold J,Baumgarten A,Bigel P,Stoll C

更新日期：1983-01-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that ha...

journal_title：Human genetics

authors： Wagner JK,Weiss KM

更新日期：2012-01-01 00:00:00

abstract：:By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...

journal_title：Human genetics

authors： Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

更新日期：1991-09-01 00:00:00

abstract：:The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...

journal_title：Human genetics

authors： Gerber S,Rozet JM,Takezawa SI,dos Santos LC,Lopes L,Gribouval O,Penet C,Perrault I,Ducroq D,Souied E,Jeanpierre M,Romana S,Frézal J,Ferraz F,Yu-Umesono R,Munnich A,Kaplan J

更新日期：2000-09-01 00:00:00

abstract：:The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...

journal_title：Human genetics

authors： Waye JS,Eng B,Hunt JA,Chui DH

更新日期：1994-11-01 00:00:00

abstract：:Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in patients with heterogeneous genetic disorders, especially in those with neurocognitive phenotypes. Utility of CES in consanguineous populations has not yet been determined on a large scale. A clinical cohort of 149 probands from Qata...

journal_title：Human genetics

authors： Yavarna T,Al-Dewik N,Al-Mureikhi M,Ali R,Al-Mesaifri F,Mahmoud L,Shahbeck N,Lakhani S,AlMulla M,Nawaz Z,Vitazka P,Alkuraya FS,Ben-Omran T

更新日期：2015-09-01 00:00:00

abstract：:DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...

journal_title：Human genetics

authors： Rappold GA,Henke A,Pohlschmid M,Huisman TH

更新日期：1992-03-01 00:00:00

abstract：:Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...

journal_title：Human genetics

authors： Jenderny J,Köster E,Meyer A,Borchers O,Grote W,Harms D,Jänig U

更新日期：1995-12-01 00:00:00

abstract：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

journal_title：Human genetics

authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

更新日期：1993-03-01 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...

journal_title：Human genetics

authors： Kamatani N,Terai C,Kuroshima S,Nishioka K,Mikanagi K

更新日期：1987-02-01 00:00:00