Inbreeding in recessive diseases.


:The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibrosis: 1.4% cystinosis: 7.1% nephronophtisis: 5.6% spinal muscular atrophy: 4.5% albinism: 5.0% achromatopsia: 12.5% (Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriage relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France. Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.


Hum Genet


Human genetics


Tchen P,Bois E,Feingold J,Feingold N,Kaplan J




Has Abstract


1977-09-22 00:00:00












  • A 5'-truncated c-myc gene variant not associated with a risk of cancer.

    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

    pub_type: 杂志文章


    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

  • A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.

    abstract::Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Santorsola M,Calabrese C,Girolimetti G,Diroma MA,Gasparre G,Attimonelli M

    更新日期:2016-01-01 00:00:00

  • A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.

    abstract::Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-ampl...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Daimon M,Gojyou E,Sugawara M,Yamatani K,Tominaga M,Sasaki H

    更新日期:1997-02-01 00:00:00

  • Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

    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

    pub_type: 杂志文章


    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

  • Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.

    abstract::A patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the l...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Hoban PR,Heighway J,White GR,Baker B,Gardner J,Birch JM,Morris-Jones P,Kelsey AM

    更新日期:1995-06-01 00:00:00

  • Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney.

    abstract::The cellular origin of trisomy 7 in non-neoplastic kidney tissue specimens from 10 patients, seven with malignant tumors and three with non-neoplastic kidney diseases, was studied by the MAC (morphology antibody chromosomes) technique, which allows analysis of cellular morphology/histology, immunophenotype, and chromo...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Knuutila S,Larramendy ML,Elfving P,el-Rifai W,Miettinen A,Mitelman F

    更新日期:1995-02-01 00:00:00

  • DNA diagnosis of hydatidiform mole using the polymerase chain reaction.

    abstract::We have used the polymerase chain reaction (PCR) technique for the diagnosis of hydatidiform mole, a trophoblastic disease. For this, we targeted the hypervariable 3' flanking region of the APOB gene (APOB/VNTR) because of its high heterozygosity index (0.61) in the Japanese population. We examined seven clinical case...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fukuyama R,Takata M,Kudoh J,Sakai K,Tamura S,Shimizu N

    更新日期:1991-06-01 00:00:00

  • Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

    abstract::Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ballabio A,Parenti G,Napolitano E,Di Natale P,Andria G

    更新日期:1985-01-01 00:00:00

  • Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.

    abstract::A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Viersbach R,Schwanitz G,Nöthen MM

    更新日期:1994-06-01 00:00:00

  • Ten families with fragile X syndrome: linkage relationships with four DNA probes from distal Xq.

    abstract::We present clinical, cytogenetic, and linkage data of four DNA probes from the terminal long arm of the X chromosome in ten new families with fragile X syndrome. A prior/posterior method of multipoint linkage analysis is employed to combine these results with published data to refine the linkage map of terminal Xq. Te...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Buchanan JA,Buckton KE,Gosden CM,Newton MS,Clayton JF,Christie S,Hastie N

    更新日期:1987-06-01 00:00:00

  • Partial trisomy 6p.

    abstract::A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

    更新日期:1979-04-17 00:00:00

  • Temporary increase in chromosome breakage in an infant prenatally exposed to lead.

    abstract::An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Qazi QH,Madahar C,Yuceoglu AM

    更新日期:1980-02-01 00:00:00

  • Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

    abstract::A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Piantanida M,Dellavecchia C,Floridia G,Giglio S,Hoeller H,Dordi B,Danesino C,Schinzel A,Zuffardi O

    更新日期:1997-06-01 00:00:00

  • Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

    abstract::A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Houshmand M,Larsson NG,Oldfors A,Tulinius M,Holme E

    更新日期:1996-03-01 00:00:00

  • Variation in the FABP2 promoter alters transcriptional activity and is associated with body composition and plasma lipid levels.

    abstract::The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Damcott CM,Feingold E,Moffett SP,Barmada MM,Marshall JA,Hamman RF,Ferrell RE

    更新日期:2003-05-01 00:00:00

  • The human lactase persistence-associated SNP -13910*T enables in vivo functional persistence of lactase promoter-reporter transgene expression.

    abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fang L,Ahn JK,Wodziak D,Sibley E

    更新日期:2012-07-01 00:00:00

  • X-linked steroid sulfatase: evidence for different gene-dosage in males and females.

    abstract::Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Müller CR,Migl B,Traupe H,Ropers HH

    更新日期:1980-01-01 00:00:00

  • Sequence of centromere separation another mechanism for the origin of nondisjunction.

    abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Vig BK

    更新日期:1984-01-01 00:00:00

  • Serum haptoglobin types and leukemia.

    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

    pub_type: 杂志文章


    authors: Nevo S,Tatarsky I

    更新日期:1986-07-01 00:00:00

  • 5-methylcytosine in heterochromatic regions of chromosomes in Bovidae.

    abstract::The centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Schnedl W,Erlanger BF,Miller OJ

    更新日期:1976-01-28 00:00:00

  • Gene-gene and gene-environment interactions in ulcerative colitis.

    abstract::Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wang MH,Fiocchi C,Zhu X,Ripke S,Kamboh MI,Rebert N,Duerr RH,Achkar JP

    更新日期:2014-05-01 00:00:00

  • A new biallelic DNA polymorphism of the human COL5A1 gene.

    abstract::A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Cappa F,Caridi G,Gimelli G,Ghiggeri GM

    更新日期:1995-05-01 00:00:00

  • Cocultivation of Fanconi anemia cells and of mouse lymphoma mutants leads to interspecies complementation of chromosomal hypersensitivity to DNA cross-linking agents.

    abstract::We have studied the effects of cocultivation on the frequency of mitomycin C (MMC)-induced chromosomal aberrations. This was carried out by cocultivating Fanconi anemia (FA) cells from the genetic complementation groups A and B with both normal mouse lymphoma L5178Y cells and the derived "FA-like" mutant cells, MCN-15...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Rosselli F,Moustacchi E

    更新日期:1990-05-01 00:00:00

  • Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.

    abstract::One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

    更新日期:2006-02-01 00:00:00

  • Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.

    abstract::CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequenc...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Millar DS,Green PJ,Zoll B,Kakkar VV,Cooper DN

    更新日期:1991-05-01 00:00:00

  • Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

    abstract::Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Citarella F,Tripodi M,Fantoni A,Bernardi F,Romeo G,Rocchi M

    更新日期:1988-12-01 00:00:00

  • Mutation detection in FGFR2 craniosynostosis syndromes.

    abstract::Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Hollway GE,Suthers GK,Haan EA,Thompson E,David DJ,Gecz J,Mulley JC

    更新日期:1997-02-01 00:00:00

  • Two SRY-negative XX male brothers without genital ambiguity.

    abstract::We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

    更新日期:1997-10-01 00:00:00

  • Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

    abstract::Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat sy...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Goodart SA,Butler MG,Overhauser J

    更新日期:1996-06-01 00:00:00

  • FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes.

    abstract::X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the repli...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Yeshaya J,Shalgi R,Shohat M,Avivi L

    更新日期:1999-07-01 00:00:00