Abstract:
:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified into three groups according to the break points of the original chromosomes. The incidence of both acentric fragments being larger than half of the original chromosome (combination 1) was only seven (3%) and did not contribute significantly to induction rates. When the broken acentric fragments of two affected chromosomes were smaller than half of the original chromosomes (combination 2), which was found in 175 (77%) rearrangements, the induction rates of dicentrics and translocations were about the same (86:89). But if the sizes of the broken segments were unequal in both chromosomes (combination 3: one with a larger acentric part and the other with a smaller acentric part), the yield of dicentrics was significantly lower than that of translocations (16:30). It was suggested that there was a special mechanism causing preferential reduction of dicentrics in reciprocal exchanges originated from the heteromorphic size of broken chromosomes in the last combination.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Zhang W,Hayata Idoi
10.1007/s10038-003-0071-xkeywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
531-534issue
10eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-003-0071-xjournal_volume
48pub_type
杂志文章abstract::Genetic factors, alone or in interaction with components of the diet, are thought to be involved in the development of the metabolic syndrome. The objective of our study was first to compare the frequency of the peroxisome proliferator-activated receptor (PPAR)alpha-L162V polymorphism in a sample of men with and witho...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0177-9
更新日期:2004-01-01 00:00:00
abstract::MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.109
更新日期:2011-12-01 00:00:00
abstract::Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0765-3
更新日期:2020-09-01 00:00:00
abstract::Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.51
更新日期:2016-09-01 00:00:00
abstract::Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.34
更新日期:2012-06-01 00:00:00
abstract::Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.31
更新日期:2011-06-01 00:00:00
abstract::Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200008
更新日期:2002-01-01 00:00:00
abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0352-4
更新日期:2018-02-01 00:00:00
abstract::As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0137-4
更新日期:2004-01-01 00:00:00
abstract::We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0004-8
更新日期:2003-01-01 00:00:00
abstract::We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. The...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0108-7
更新日期:2007-01-01 00:00:00
abstract::Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic C...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0698-x
更新日期:2020-03-01 00:00:00
abstract::Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-numbe...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.53
更新日期:2015-09-01 00:00:00
abstract::Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0274-2
更新日期:2008-01-01 00:00:00
abstract::The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.93
更新日期:2009-11-01 00:00:00
abstract::Natural tooth loss represents a major medical issue within the elderly population, since it impairs masticatory function critical for oral intake of essential nutrition. Contribution of genetic factors has been implicated in the determination of natural tooth loss; degree of reduction in number of natural teeth remain...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0024-4
更新日期:2003-01-01 00:00:00
abstract::Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.92
更新日期:2014-12-01 00:00:00
abstract::Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which t...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.19
更新日期:2013-05-01 00:00:00
abstract::Recently, ubiquitin-specific peptidase 46 (Usp46) has been identified as a quantitative trait gene responsible for immobility in the tail suspension test and forced swimming test in mice. Mice with 3-bp deletion in Usp46 exhibited loss of 'behavioral despair' under inescapable stresses in addition to abnormalities in ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.139
更新日期:2010-03-01 00:00:00
abstract::The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0302-2
更新日期:2008-01-01 00:00:00
abstract::We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070017
更新日期:2000-01-01 00:00:00
abstract::Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrel...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.91
更新日期:2010-10-01 00:00:00
abstract::Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1007/s100380050045
更新日期:1998-01-01 00:00:00
abstract::Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.99
更新日期:2016-12-01 00:00:00
abstract::The differential transmission of alleles from parents to affected children indicates that the locus under investigation is either directly involved in the occurrence of the disease or that there are allelic associations with other loci that are directly involved. Conditional logistic regression applied to a diallelic ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0217-5
更新日期:2005-01-01 00:00:00
abstract::Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.59
更新日期:2011-08-01 00:00:00
abstract::Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PP...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.1
更新日期:2012-04-01 00:00:00
abstract::The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0415-1
更新日期:2018-05-01 00:00:00
abstract::Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, developmental delay and severe intellectual disability. Dysmorphic features ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0508-x
更新日期:2018-11-01 00:00:00
abstract::The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the associat...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0206-8
更新日期:2004-01-01 00:00:00