Duchenne muscular dystrophy. Frequency of sporadic cases.

abstract：:The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...

journal_title：Human genetics

authors： Patracchini P,Calzolari E,Aiello V,Palazzi P,Banin P,Marchetti G,Bernardi F

更新日期：1989-10-01 00:00:00

abstract：:The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...

journal_title：Human genetics

authors： Nafa K,Meriane F,Reghis A,Benabadji M,Demenais F,Guilloud-Bataille M,Sultan Y,Kaplan JC,Delpech M

更新日期：1990-04-01 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：:The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(...

journal_title：Human genetics

authors： Motegi T

更新日期：1981-01-01 00:00:00

abstract：:A highly polymorphic CA repeat was identified in a cosmid containing the 5' end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families. ...

journal_title：Human genetics

authors： Bourn D,Strachan T

更新日期：1995-06-01 00:00:00

abstract：:Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22...

journal_title：Human genetics

authors： Mehraein Y,Wippermann CF,Michel-Behnke I,Nhan Ngo TK,Hillig U,Giersberg M,Aulepp U,Barth H,Fritz B,Rehder H

更新日期：1997-04-01 00:00:00

abstract：:Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...

journal_title：Human genetics

authors： Honda H,Miharu N,Samura O,He H,Ohama K

更新日期：2000-02-01 00:00:00

abstract：:Haptoglobin types were determined on 211 patients with leukemia of the four most common types: acute lymphatic (ALL), chronic lymphatic (CLL), acute myeloid (AML), and chronic myeloid leukemia (CML). Frequency distributions of the three common Hp types in patients differed significantly from the control population. A ...

journal_title：Human genetics

authors： Nevo S,Tatarsky I

更新日期：1986-07-01 00:00:00

abstract：:The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...

journal_title：Human genetics

authors： Fukushima N,Anakura M,Arashima S,Matsuda I,Ohsawa T

更新日期：1976-05-19 00:00:00

abstract：:A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...

journal_title：Human genetics

authors： Müller CR,Grimm T

更新日期：1986-10-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities. ...

journal_title：Human genetics

authors： Jalal SM,Day DW,Garcia M,Benjamin T,Rogers J

更新日期：1989-01-01 00:00:00

abstract：:Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...

journal_title：Human genetics

authors： Pruchno CJ,Cohn DH,Wallis GA,Willing MC,Starman BJ,Zhang XM,Byers PH

更新日期：1991-05-01 00:00:00

abstract：:The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders. ...

journal_title：Human genetics

authors： Vits L,Willems PJ

更新日期：1992-11-01 00:00:00

abstract：:We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...

journal_title：Human genetics

authors： Wassink TH,Losh M,Frantz RS,Vieland VJ,Goedken R,Piven J,Sheffield VC

更新日期：2005-07-01 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：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:The functional intronless gene coding for a calmodulin-like protein (CLP) has been localized to human chromosome 10p13-ter. Chromosomal assignment was performed by Southern blot analysis of DNA from human-rodent somatic cell hybrids and amplification of a CLP gene-specific 1090-bp DNA fragment by the polymerase chain ...

journal_title：Human genetics

authors： Berchtold MW,Koller M,Egli R,Rhyner JA,Hameister H,Strehler EE

更新日期：1993-01-01 00:00:00

abstract：:We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...

journal_title：Human genetics

authors： Kaufman BA,White PS,Steinbrueck T,Donis-Keller H,Brodeur GM

更新日期：1994-10-01 00:00:00

abstract：:Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...

journal_title：Human genetics

authors： Sampat R,Fu R,Larovere LE,Torres RJ,Ceballos-Picot I,Fischbach M,de Kremer R,Schretlen DJ,Puig JG,Jinnah HA

更新日期：2011-01-01 00:00:00

abstract：:X chromosome inactivation results in dosage equivalency for X-linked gene expression between males and females. However, some X-linked genes show variable X inactivation, being expressed from the inactive X in some females but subject to inactivation in other women. The human tissue inhibitor of metalloproteinases-1 (...

journal_title：Human genetics

authors： Anderson CL,Brown CJ

更新日期：2002-03-01 00:00:00

abstract：:Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...

journal_title：Human genetics

authors： Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

更新日期：1992-05-01 00:00:00

abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

journal_title：Human genetics

authors： Gottweis H,Chen H,Starkbaum J

更新日期：2011-09-01 00:00:00

abstract：:In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfec...

journal_title：Human genetics

authors： Rose NJ,Mackay K,Byers PH,Dalgleish R

更新日期：1995-02-01 00:00:00

abstract：:A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity t...

journal_title：Human genetics

authors： Etiemble J,Kahn A,Boivin P,Bernard JF,Goudemand M

更新日期：1976-01-28 00:00:00

abstract：:Thioridazine (Mellaril), a psychotropic drug belonging to the phenothiazine group of drugs, was evaluated for its in vivo clastogenic effect on human chromosomes in lymphocyte cultures. Lymphocyte cultures were set up with peripheral blood samples of psychiatric patients (diagnosis: schizophrenia, mania, manic depress...

journal_title：Human genetics

authors： Saxena R,Ahuja YR

更新日期：1982-01-01 00:00:00

abstract：:In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and...

journal_title：Human genetics

authors： Yao YG,Watkins WS,Zhang YP

更新日期：2000-11-01 00:00:00

abstract：:We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...

journal_title：Human genetics

authors： Losekoot M,Fodde R,Giordano PC,Bernini LF

更新日期：1989-08-01 00:00:00

abstract：:Abnormalities of chromosome 9p have been reported in human leukemias and lymphomas, and in cell lines lacking the enzyme methylthioadenosine phosphorylase. It has been shown pCN2, the 3' nontranslated region of the N-ras oncogene, crosshybridizes with unknown DNA segments on chromosome 6, 9p, and 22, in addition to th...

journal_title：Human genetics

authors： Nobori T,Hexdall LE,Carson DA

更新日期：1991-08-01 00:00:00

abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

journal_title：Human genetics

authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

更新日期：1989-07-01 00:00:00