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












  • Emerging genotype-phenotype relationships in patients with large NF1 deletions.

    abstract::The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Kehrer-Sawatzki H,Mautner VF,Cooper DN

    更新日期:2017-04-01 00:00:00

  • Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

    abstract::Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Whatley SD,Woolf JR,Elder GH

    更新日期:1999-06-01 00:00:00

  • Alport syndrome: a genetic study of 31 families.

    abstract::Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

    更新日期:1992-12-01 00:00:00

  • The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.

    abstract::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

    更新日期:2004-01-01 00:00:00

  • A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12.

    abstract::Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal domina...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Yang Y,Guo J,Liu Z,Tang S,Li N,Yang M,Pang Q,Fan F,Bu J,Yuan ST,Xiao X,Chen Y,Zhao K

    更新日期:2006-08-01 00:00:00

  • Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

    abstract::Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Mowat AJ,Crompton M,Ziff JL,Aldren CP,Lavy JA,Saeed SR,Dawson SJ

    更新日期:2018-05-01 00:00:00

  • Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.

    abstract::Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Hatchell KE,Lu Q,Hebbring SJ,Michos ED,Wood AC,Engelman CD

    更新日期:2019-10-01 00:00:00

  • Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.

    abstract::The incidence of exfoliated epithelial cells containing micronuclei was determined in two small human populations, one homozygous and the other heterozygous for the Bloom syndrome gene (bl). The objectives of the study were two: to learn whether the chromosome instability featured so prominently by Bloom syndrome (BS)...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Rosin MP,German J

    更新日期:1985-01-01 00:00:00

  • Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

    abstract::We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Crane AM,Martin LS,Valle D,Ledley FD

    更新日期:1992-05-01 00:00:00

  • Kalirin: a novel genetic risk factor for ischemic stroke.

    abstract::Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene wit...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Krug T,Manso H,Gouveia L,Sobral J,Xavier JM,Albergaria I,Gaspar G,Correia M,Viana-Baptista M,Simões RM,Pinto AN,Taipa R,Ferreira C,Fontes JR,Silva MR,Gabriel JP,Matos I,Lopes G,Ferro JM,Vicente AM,Oliveira SA

    更新日期:2010-03-01 00:00:00

  • Risk estimation and risk prediction using machine-learning methods.

    abstract::After an association between genetic variants and a phenotype has been established, further study goals comprise the classification of patients according to disease risk or the estimation of disease probability. To accomplish this, different statistical methods are required, and specifically machine-learning approache...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Kruppa J,Ziegler A,König IR

    更新日期:2012-10-01 00:00:00

  • The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

    abstract::Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: De Braekeleer M,Hechtman P,Andermann E,Kaplan F

    更新日期:1992-04-01 00:00:00

  • A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

    abstract::We report here that a defect of the interleukin common gamma subunit (gamma c) in X-linked severe combined immunodeficiency (XSCID) previously known as a missense mutation resulted instead in exon skipping in a Japanese XSCID patient. The phenotype of the patient was consistent with that of typical XSCID, and his Epst...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kanai N,Yanai F,Hirose S,Nibu K,Izuhara K,Tani T,Kubota T,Mitsudome A

    更新日期:1999-01-01 00:00:00

  • Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

    abstract::Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Read AP,Thakker RV,Davies KE,Mountford RC,Brenton DP,Davies M,Glorieux F,Harris R,Hendy GN,King A

    更新日期:1986-07-01 00:00:00

  • Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme.

    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

    pub_type: 杂志文章


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

    更新日期:1976-01-28 00:00:00

  • FAS -1,377 G/A polymorphism is associated with cancer susceptibility: evidence from 10,564 cases and 12,075 controls.

    abstract::Published data on the association between FAS -1,377 G/A polymorphism and cancer risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A total of 17 studies including 10,564 cases and 12,075 controls were involved in this meta-analysis. Overall, significantly el...

    journal_title:Human genetics

    pub_type: 杂志文章,meta分析


    authors: Qiu LX,Shi J,Yuan H,Jiang X,Xue K,Pan HF,Li J,Zheng MH

    更新日期:2009-05-01 00:00:00

  • Combined action of isoniazid and para-aminosalicylic acid in vivo on human chromosomes in lymphocyte cultures.

    abstract::Two antitubercular drugs, viz., isoniazid (INH) and para-aminosalicylic acid (PAS), in combination, were evaluated for their in vivo clastogenic effects of human lymphocyte chromosomes. Lymphocyte cultures from tuberculosis patients taking a therapeutic dose of INH and PAS for a period of not less than 3 months and fr...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Jaju M,Jaju M,Ahuja YR

    更新日期:1981-01-01 00:00:00

  • Microinjection of normal cell extracts into Fanconi anemia fibroblasts corrects defective scheduled DNA synthesis recovery after 8-methoxypsoralen plus UVa treatment.

    abstract::Fanconi anemia (FA) cells show an increased sensitivity to 8-methoxypsoralen (8-MOP) plus UVa treatment; after an initial reduction of their semiconservative DNA synthesis rate, they do not recover like normal cells. We microinjected extracts from normal cells into FA fibroblasts from complementation group A and deter...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Gök MM,Wunder E

    更新日期:1987-04-01 00:00:00

  • An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

    abstract::Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kokkonen H,Leisti J

    更新日期:2000-07-01 00:00:00

  • Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.

    abstract::A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Hashimoto T,Tsukino R,Chiyo H,Furuyama J

    更新日期:1980-02-01 00:00:00

  • Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

    abstract::Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Ma AS,Grigg JR,Jamieson RV

    更新日期:2019-09-01 00:00:00

  • A beginners guide to SNP calling from high-throughput DNA-sequencing data.

    abstract::High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single n...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Altmann A,Weber P,Bader D,Preuss M,Binder EB,Müller-Myhsok B

    更新日期:2012-10-01 00:00:00

  • A response to "Personalised medicine and population health: breast and ovarian cancer".

    abstract:: ...

    journal_title:Human genetics

    pub_type: 信件


    authors: Antoniou A,Anton-Culver H,Borowsky A,Broeders M,Brooks J,Chiarelli A,Chiquette J,Cuzick J,Delaloge S,Devilee P,Dorval M,Easton D,Eisen A,Eklund M,Eloy L,Esserman L,Garcia-Closas M,Goldgar D,Hall P,Knoppers BM,Kraf

    更新日期:2019-03-01 00:00:00

  • Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.

    abstract::Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate f...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Lim HN,Berkovitz GD,Hughes IA,Hawkins JR

    更新日期:2000-12-01 00:00:00

  • Detection of a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 (TYRP) gene.

    abstract::We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wildenberg SC,King RA,Oetting WS

    更新日期:1995-02-01 00:00:00

  • Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

    abstract::The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wulfsberg EA,Carrel RE,Klisak IJ,O'Brien TJ,Sykes JA,Sparkes RS

    更新日期:1983-01-01 00:00:00

  • Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

    abstract::Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...

    journal_title:Human genetics

    pub_type: 临床试验,杂志文章


    authors: Fichera M,Failla P,Saccuzzo L,Miceli M,Salvo E,Castiglia L,Galesi O,Grillo L,Calì F,Greco D,Amato C,Romano C,Elia M

    更新日期:2019-02-01 00:00:00

  • Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy.

    abstract::The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

    更新日期:1996-08-01 00:00:00

  • Genome-wide targeted search for human specific and polymorphic L1 integrations.

    abstract::Retroelements (REs) occupy up to 40% of the human genome. Newly integrated REs can change the pattern of expression of pre-existing host genes and therefore might play a significant role in evolution. In particular, human- and primate-specific REs could affect the divergence of the Hominoidea superfamily. A comparativ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Buzdin A,Ustyugova S,Gogvadze E,Lebedev Y,Hunsmann G,Sverdlov E

    更新日期:2003-05-01 00:00:00

  • Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

    abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Crotty PL,Whitley CB

    更新日期:1992-11-01 00:00:00