Abstract:
:Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single copy spacer. DRB1 is the most polymorphic protein-coding locus in man and all vertebrates investigated. The entire DRB1 variability exists in exon 2. DRB1 genes in different haplotype groups (DR1, DR51, DR52, DR8 and DR53) are accompanied by characteristic modifications of the (GT)n(GA)m block (3' to group-specific single copy spacers). Among more than 520 alleles analysed, > 100 different types of microsatellites were observed. The perfect (GT)n and (GA)m blocks vary in length and may be partly 'degenerated', mostly in a subgroup-specific manner. Interestingly, the extent of microsatellite diversity varies in given DRB1 alleles. While the microsatellites of the DR7, DR9 alleles and in the DR1 group are virtually invariant, in DR4 and DR13, in particular, simple repeats appear hypervariable with at least 15 or 17 different length alleles, respectively. Comparing Caucasians, Bushmen and South American Indians, the microsatellite variation in identical DRB1 alleles (e.g. DRB1*0102, 03011, 1302) is smaller than within any of the DR groups in Caucasians. Taken together, extremely polymorphic DRB1 exons evolve in concert with certain variants of an exceptionally well-preserved microsatellite.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Epplen C,Santos EJ,Guerreiro JF,van Helden P,Epplen JTdoi
10.1007/s004390050379subject
Has Abstractpub_date
1997-03-01 00:00:00pages
399-406issue
3eissn
0340-6717issn
1432-1203journal_volume
99pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271168
更新日期:1981-01-01 00:00:00
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
doi:10.1007/BF00220536
更新日期:1992-05-01 00:00:00
abstract::A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accur...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191816
更新日期:1995-10-01 00:00:00
abstract::The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0352-0
更新日期:2007-06-01 00:00:00
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
doi:10.1007/BF00401242
更新日期:1986-07-01 00:00:00
abstract::It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390435
更新日期:1977-04-07 00:00:00
abstract::Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0861-9
更新日期:2003-02-01 00:00:00
abstract::1108 tribal and 1062 non-tribal individuals from three districts of Andhra Pradesh were examined for serum albumin variants. A slow-moving variant, identical to Albumin Kashmir was found in a single Muslim individual. Another new slow-moving variant, faster than Albumin Kashmir found in a single individual of a Koya D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287180
更新日期:1979-10-01 00:00:00
abstract::We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201578
更新日期:1994-06-01 00:00:00
abstract::Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference was found in alleli...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00211011
更新日期:1994-11-01 00:00:00
abstract::Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0894-4
更新日期:2011-01-01 00:00:00
abstract::Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1179-x
更新日期:2012-09-01 00:00:00
abstract::Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0517-5
更新日期:2008-07-01 00:00:00
abstract::Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02236-1
更新日期:2020-11-19 00:00:00
abstract::In a pilot study, the possible influence of the inherited electroencephalogram (EEG) pattern on aspects of psychologic maturation was investigated. The twin sample consisted of 208 pairs, 110 monozygotic (MZ) and 98 dizygotic (DZ), mostly children and adolescents. The study showed a greater similarity between MZ compa...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295604
更新日期:1982-01-01 00:00:00
abstract::The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050917
更新日期:1999-01-01 00:00:00
abstract::We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4--80%) of RA cells cultured for 4--6 days by use of indirect immunofluor...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274694
更新日期:1981-01-01 00:00:00
abstract::Cultured human fibroblasts and amniotic fluid cells (AF cells) were examined for the presence of steroid hormone receptors. In both cell types, the androgen (DHT) or glucocorticoid (dexamethasone) receptor was detected, but not the estrogen receptor. Binding parameters in fibroblasts were: for androgen: KD = 3.7 X 10(...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295427
更新日期:1977-12-23 00:00:00
abstract::Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-008-0583-8
更新日期:2009-01-01 00:00:00
abstract::We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281870
更新日期:1996-05-01 00:00:00
abstract::The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287179
更新日期:1979-10-01 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
pub_type: 杂志文章
doi:10.1007/BF01213104
更新日期:1991-05-01 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
pub_type: 杂志文章
doi:10.1007/s004390050395
更新日期:1997-04-01 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
pub_type: 杂志文章
doi:10.1007/BF00288279
更新日期:1989-04-01 00:00:00
abstract::Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282541
更新日期:1986-11-01 00:00:00
abstract::Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278290
更新日期:1979-09-02 00:00:00
abstract::Increasing experimental evidence supports a connection between inflammation and mitochondrial dysfunction. Both acute and chronic inflammatory diseases course with elevated free radicals production that may affect mitochondrial proteins, lipids, and mtDNA. The subsequent mitochondrial impairment produces more reactive...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-011-1057-y
更新日期:2012-02-01 00:00:00
abstract::The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428295
更新日期:1990-09-01 00:00:00
abstract::A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271579
更新日期:1979-11-01 00:00:00
abstract::The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050888
更新日期:1998-12-01 00:00:00