Pure gonadal dysgenesis (type XX). Report on a family with four affected sibs.

abstract：:As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...

journal_title：Human genetics

authors： Schaid DJ,Sinnwell JP,McDonnell SK,Thibodeau SN

更新日期：2013-11-01 00:00:00

abstract：:Experiments have been performed to determine whether human lymphocytes in primary cultures can show an "adaptive" response to the induction of cellular lesions (manifested as a production of sister chromatid exchanges, SCEs) as previously found in bacteria and established human and mammalian cell lines. Human lymphocy...

journal_title：Human genetics

authors： Morimoto K,Sato-Mizuno M,Koizumi A

更新日期：1986-05-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...

journal_title：Human genetics

authors： Clark RP,Goff MR,MacDermot KD

更新日期：1990-11-01 00:00:00

abstract：:A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...

journal_title：Human genetics

authors： Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HH

更新日期：1988-12-01 00:00:00

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

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

更新日期：1991-05-01 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00

abstract：: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 fibro...

journal_title：Human genetics

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

更新日期：1977-09-22 00:00:00

abstract：:Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesiz...

journal_title：Human genetics

authors： Tian T,Lei Y,Chen Y,Karki M,Jin L,Finnell RH,Wang L,Ren A

更新日期：2020-10-01 00:00:00

abstract：:The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. The HPS-1 gene has been mapped to chromosome 10q23.1-23.3 and encodes a 79-kDa p...

journal_title：Human genetics

authors： Huizing M,Anikster Y,Gahl WA

更新日期：2000-03-01 00:00:00

abstract：:Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

journal_title：Human genetics

authors： Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

更新日期：1987-10-01 00:00:00

abstract：:Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...

journal_title：Human genetics

authors： Jiang Z,Akey JM,Shi J,Xiong M,Wang Y,Shen Y,Xu X,Chen H,Wu H,Xiao J,Lu D,Huang W,Jin L

更新日期：2001-07-01 00:00:00

abstract：:The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...

journal_title：Human genetics

authors： Dudley CR,Giuffra LA,Tippett P,Kidd KK,Reeders ST

更新日期：1990-11-01 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...

journal_title：Human genetics

authors： Scacchi R,Corbo RM,Spennati G,Palmarino R

更新日期：1979-04-05 00:00:00

abstract：:B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

journal_title：Human genetics

authors： Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

更新日期：1997-04-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 00:00:00

abstract：:Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...

journal_title：Human genetics

authors： Chen Z,Takahashi M,Naruse T,Nakajima T,Chen YW,Inoue Y,Ishikawa I,Iwai T,Kimura A

更新日期：2007-11-01 00:00:00

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

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

更新日期：1983-01-01 00:00:00

abstract：:The p53 gene product is part of a pathway regulating growth arrest at the G1 checkpoint of the cell cycle. Mutation of other components of this pathway, including the products of the ataxia telangiectasia (AT), GADD45, mdm2, and p21WAF1/CIP1 genes may have effects comparable to mutations in the p53 gene. The GADD45 ge...

journal_title：Human genetics

authors： Blaszyk H,Hartmann A,Sommer SS,Kovach JS

更新日期：1996-04-01 00:00:00

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

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

更新日期：2012-10-01 00:00:00

abstract：:Comparative in situ hybridization in various primate species has revealed a pseudoautosomal location for the human ANT3 gene and an X-specific location for the steroid sulfatase (STS) gene throughout the higher primate species up to the New World monkeys. However, ANT3 and STS map together on an autosome of two prosim...

journal_title：Human genetics

authors： Toder R,Rappold GA,Schiebel K,Schempp W

更新日期：1995-01-01 00:00:00

abstract：:A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular deg...

journal_title：Human genetics

authors： Zhang Q,Zulfiqar F,Xiao X,Riazuddin SA,Ayyagari R,Sabar F,Caruso R,Sieving PA,Riazuddin S,Hejtmancik JF

更新日期：2005-12-01 00:00:00

abstract：:The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...

journal_title：Human genetics

authors： Colapietro P,Gervasini C,Natacci F,Rossi L,Riva P,Larizza L

更新日期：2003-11-01 00:00:00

abstract：:Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...

journal_title：Human genetics

authors： Riekki K,Baillie JE,Nair KK,Dill FJ,Poland BJ,Baillie DL

更新日期：1977-07-26 00:00:00

abstract：:Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...

journal_title：Human genetics

authors： Delettre C,Griffoin JM,Kaplan J,Dollfus H,Lorenz B,Faivre L,Lenaers G,Belenguer P,Hamel CP

更新日期：2001-12-01 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 00:00:00

abstract：:Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the...

journal_title：Human genetics

authors： Shipman R,Schraml P,Colombi M,Raefle G,Ludwig CU

更新日期：1993-06-01 00:00:00

abstract：:It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...

journal_title：Human genetics

authors： Yuasa I,Suenaga K,Umetsu K,Ito K,Robinet-Levy M

更新日期：1987-11-01 00:00:00

abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

journal_title：Human genetics

authors： Kraus C,Ballhausen WG

更新日期：1992-03-01 00:00:00