Abstract:
Background:Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (KCNQ1/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder. We also aimed to identify the pathogenic mutation causing the hearing loss disorder segregating in the pedigree. Methods:LQTS patients were asked about their ancestry and possible origin in a HH family. They were also offered a predictive testing for the HFE genotype. Church books were screened for families with hearing loss. One HH family had two members with hearing loss, who underwent molecular genetic analysis of the LQTS founder mutation, connexin 26 and thereafter exome sequencing. Another family with hearing loss in repeat generations was also analyzed for connexin 26 and underwent exome sequencing. Results:Of nine LQTS patients studied, four carried a HFE mutation (two p.C282Y, two p.H63D), none was homozygous. Three LQTS patients confirmed origin in a female founder ( b 1694, identical to AJ b 1694, a HFE pedigree member from the Fax river. Her descent of 44 HH families, included also 29 families with hearing loss (HL) suggesting JLNS. Eleven LQTS probands confirmed origin in a second founder couple (b 1614/1605) in which the woman b 1605 was identical to a HFE pedigree member from the Fjällsjö river. In her descent there were not only 64 HH, six WND families, one JLNS, but also 48 hearing loss families. Most hearing loss was non syndromic and caused by founder effects of the late 16th century. One was of Swedish origin carrying the WHRN, c.1977delC, (p.S660Afs*30) mutation, the other was a TMC1(NM_138691),c.1814T>C,(p.L605P) mutation, possibly of Finnish origin. Conclusions:Deep human HFE genealogies show HFE to be associated with other genetic disorders like Wilson´s disease, LQTS, JLNS, and autosomal recessive hearing loss. Two new homozygous HL mutations in WHRN/p.S660Afs*30 and TMC1/p.L605P were identified,none of them previously reported from Scandinavia. The rarity of JLNS was possibly caused by miscarriage or intrauterine death. Most hearing loss (81.7%) was seen after 1844 when first cousin marriages were permitted. However, only 10 (10.3%) came from 1st cousin unions and only 2 (2.0 %) was born out of wedlock.
journal_name
Hereditasjournal_title
Hereditasauthors
Olsson KS,Wålinder O,Jansson U,Wilbe M,Bondeson ML,Stattin EL,Raha-Chowdhury R,Williams Rdoi
10.1186/s41065-017-0052-2subject
Has Abstractpub_date
2017-12-19 00:00:00pages
16eissn
0018-0661issn
1601-5223pii
52journal_volume
154pub_type
杂志文章相关文献
HEREDITAS文献大全abstract::Tos17 is a copia-like endogenous retrotransposon of rice, which can be activated by various stresses such as tissue culture and alien DNA introgression. To confirm element mobilization by introgression and to study possible structural and epigenetic effects of Tos17 insertion on its target sequences, we isolated all f...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2004.01808.x
更新日期:2004-01-01 00:00:00
abstract::Silver nitrate staining of rainbow trouts (Oncorhynchus mykiss) chromosomes, for the identification of the nucleolar organizing regions (NORs), revealed that in individuals from Núcleo Experimental de Salmonicultura de Campos do Jordão (Brazil) NORs were located in the long arms of submetacentric pair while in specime...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1034/j.1601-5223.2002.1360308.x
更新日期:2002-01-01 00:00:00
abstract::The banding pattern of the proximal half of the polytene salivary gland X chromosome of Drosophila melanogaster was studied using thin section electron microscopy. The bands were identified according to Bridges' revised light microscopic map. On Bridges' map, the divisions 11 to 20 contain 112 single bands and as many...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.1993.00123.x
更新日期:1993-01-01 00:00:00
abstract::In 1921 Hereditas published an article on the fall of Rome written by the famous classical scholar Martin P:son Nilsson. Why was a paper on this unexpected topic printed in the newly founded journal? To Nilsson, the demise of the Roman Empire was explained by the "bastardization" occurring between "races" from differe...
journal_title:Hereditas
pub_type: 传,历史文章,杂志文章
doi:10.1111/hrd2.00080
更新日期:2014-12-01 00:00:00
abstract::Colostethus marchesianus from the type locality and three related species had 2n = 22 chromosomes, which differed from most other Colostethus species that have 2n = 24 chromosomes. The species analyzed were morphologically similar and showed a conservative karyotype, although they could be distinguished from each othe...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2003.01805.x
更新日期:2003-01-01 00:00:00
abstract::Two x-type high molecular weight glutenin subunits (HMW-GS) in Aegilops tauschii, 1Dx3(t) and 1Dx4(t) were identified by SDS-PAGE and MALDI-TOF-MS. Their complete coding sequences were isolated by AS-PCR. 1Dx3(t) and 1Dx4(t) genes consist of 2535 bp and 2508 bp and encode 845 and 836 amino acid residues, respectively....
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2011.02215.x
更新日期:2012-02-01 00:00:00
abstract::The karyotypes of the bat species Molossus ater, M. molossus (2n = 48; NF = 64) and Molossops planirostris (2n = 34; NF = 60) were analyzed by G-, C-banding, silver nitrate staining (AgNO3), base-specific fluorochromes and fluorescent in situ hybridization (FISH). The two species of Molossus presented the constitutive...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1034/j.1601-5223.2003.01693.x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:The Drosophila hindgut is commonly used model for studying various aspects of organogenesis like primordium establishment, further specification, patterning, and morphogenesis. During embryonic development of Drosophila, many transcriptional activators are involved in the formation of the hindgut. The transc...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1186/s41065-020-00160-y
更新日期:2020-11-19 00:00:00
abstract::Four new chromosomal rearrangements are reported in the domestic pig: 3 reciprocal translocations, rcp(4;12)(p13;q13) in a crossbred boar, rcp(1;7)(q17;q26) in a Large White purebred boar, rcp(1;6)(q17;q35) in a purebred synthetic paternal line boar, and a pericentric inversion inv(2)(p13q11) in a crossbred boar. The ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2000.00055.x
更新日期:2000-01-01 00:00:00
abstract::The genetic composition and sex ratio in the Stockholm populations of Adalia bipunctata have been studied. The overall frequency of melanics is 3.2%, which is significantly lower than in the populations of St. Petersburg and other large cities along the Baltic Sea. The secondary sex ratio in the Stockholm populations ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2001.00263.x
更新日期:2001-01-01 00:00:00
abstract::Alloploids, most of them hexaploid, from crosses between tetraploid wheat, Triticum carthlicum, and the perennial tetraploid Thinopyrum junceiforme were analysed for chromosome composition, stability and fertility using genomic in situ hybridization and meiotic analysis. The alloploids differed in their total number o...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1034/j.1601-5223.2002.1360109.x
更新日期:2002-01-01 00:00:00
abstract::In this study, cytogenetic analysis of an infertile mare revealed a 64, XY karyotype. The XY sex-reversed animal had a female phenotype with gonadal dysgenesis. Using Southern blot analysis, we tested for the presence of two Y-specific genes SRY and ZFY by using DNA isolated from peripheral blood leukocytes. The resul...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.1995.00109.x
更新日期:1995-01-01 00:00:00
abstract::Hieracium is an established model system for studying the cytological and genetic basis of gametophytic apomixis. In common with most known apomicts, the formation of 'maternal seed' is not exclusive in Hieracium, as apomixis operates in conjunction with a low level of sexuality. When this occurs the form of apomixis ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1034/j.1601-5223.2003.01624.x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:Chromosome microdissection is one of the most important techniques in molecular cytogenetic research. Cotton (Gossypium Linnaeus, 1753) is the main natural fiber crop in the world. The resistance gene analog (RGA) cloning after its single chromosome microdissection can greatly promote cotton genome research ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1186/s41065-017-0035-3
更新日期:2017-05-18 00:00:00
abstract:Background:Recent large-scale genome-wide association studies (GWAS) have showed that the neuronal calcium signaling has pivotal roles in schizophrenia (SCZ) in populations of European of ancestry. However, it is not known if calcium signaling pathway genes are also associated with SCZ in Han Chinese population. Metho...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1186/s41065-017-0054-0
更新日期:2018-01-02 00:00:00
abstract::Allelic diversity and inheritance of polymorphic sites of the intron III-exon IV region of the seed specific beta-amylase gene Bmy1 were studied in a set of 55 barley accessions composed mainly of old Latvian and Scandinavian commercial varieties and three Hordeum spontaneum lines from Israel. A CAPS-marker was used f...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2004.01789.x
更新日期:2004-01-01 00:00:00
abstract::The present study characterizes the satellite DNA of the cave beetle Pholeuon proserpinae glaciale which represent about 3-5 % of its genome, and which is composed of monomers of 266 bp and 70.5 % A-T. Concerted evolution seems to act on a higher-order repeat, a dimer, composed of two types of 266-bp monomers that dif...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2003.01760.x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant results in a decrease in MTHFR enzymatic activity, which may play an important role in folate metabolism and is also an important source of DNA methylation and DNA synthesis. Several case-control studies have been conducted to assess the a...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1186/s41065-020-00129-x
更新日期:2020-04-27 00:00:00
abstract::Selection on endosperm traits among individual kernels is very important in maize because the characteristics of the kernel, especially the endosperm, are directly related to quality and yield. However the accuracy of the selection according to endosperm phenotype may be affected by heterofertilization. The objective ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2008.02056.x
更新日期:2008-10-01 00:00:00
abstract::The discovery in the mid 1970s of efficient methods of DNA sequencing and their subsequent development into more and more rapid procedures followed by sequencing the genomes of many species, including man in 2001, revolutionised the whole of biology. Remarkably, new light could be cast on the evolutionary relations of...
journal_title:Hereditas
pub_type: 杂志文章,评审
doi:10.1111/j.2007.0018-0661.02003.x
更新日期:2007-07-01 00:00:00
abstract::We have characterized a new X-chromosomal inversion in Drosophila melanogaster, extending from just distal of white to just proximal of the bb locus. The inversion places the w-isoxanthopterinless (wis) allele close to heterochromatin and under the influence of position-effect variegation (PEV). The wis gene activity ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.1993.00209.x
更新日期:1993-01-01 00:00:00
abstract::Maize is the third important major food crop. Breeding for low phytate maize genotypes is an effective strategy for decreasing the content of kernel phytic acid (a chelator of cations such as Ca(2+) and Fe(3+) ) and thereby increasing the bioavailability of nutritive minerals in human diet and animal feed. Previous st...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2013.00030.x
更新日期:2014-02-01 00:00:00
abstract::Amplified fragment length polymorphism (AFLP) DNA markers were used to characterize the genetic diversity and relationships in wild species of the genus Aegilops. Fifty populations, which included the species Aegilops biuncialis (UUMM), Ae. neglecta (UUMMNN), Ae. ovata (UUMM), Ae. ventricosa (DDNN) and Ae. triuncialis...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2001.00233.x
更新日期:2001-01-01 00:00:00
abstract::The current work describes, for the first time, the occurrence of B chromosomes in the genus Pimelodus. Cytogenetic analysis in P. ortmanni and Pimelodus sp., from the river Iguaçu basin, revealed a diploid number of 56 chromosomes. Whereas distribution pattern of C-banding in Pimelodus sp. showed predominance of hete...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2004.01812.x
更新日期:2004-01-01 00:00:00
abstract::A PCR-amplified DNA, cMWG699, is linked to the vrs1 (formerly v) locus controlling 2- and 6-rowed spikelets. Restriction analysis of the amplified DNA of 65 varieties from Europe, America, and East Asia revealed 3 alleles, named types K, A and D. Two-rowed varieties were mostly of type K allele, and 6-rowed varieties ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.1999.00077.x
更新日期:1999-01-01 00:00:00
abstract:Background:Bladder cancer was a malignant disease in patients, our research aimed at discovering the possible biomarkers for the diseases. Results:The gene chip GSE31684, including 93samples, was downloaded from the GEO datasets and co-expression network was constructed by the data. Molecular complex detection(MCODE) ...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1186/s41065-019-0083-y
更新日期:2019-01-28 00:00:00
abstract::The banding pattern of the proximal half of the polytene salivary gland 3R chromosome of Drosophila melanogaster was studied with thin section electron microscopy. Bands were identified according to Bridges' revised light microscopic map, which contains 330 single and 121 double bands within the regions 81 through 90....
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.1994.t01-1-00001.x
更新日期:1994-01-01 00:00:00
abstract::Partial amphiploids between wheat (Triticum aestivum L.) and Thinopyrum species play an important role in the transfer and use of traits from alien species. A wheat-Thinopyrum intermedium partial amphiploid, TAI8335, and its alien parent were characterized by a combination of genomic in situ hybridization (GISH) and c...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2010.02156.x
更新日期:2010-12-01 00:00:00
abstract::The dogroses, Rosa section Caninae, are all polyploid and characterised by their unbalanced meiosis; the pollen parent contributes one genome, whereas the seed parent contributes 3-5 genomes depending upon ploidy level of the species. As a result, genetically determined traits are expected to be matroclinally inherite...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.1601-5223.2001.00001.x
更新日期:2001-01-01 00:00:00
abstract::Within and among populations genetic variance of twelve Hemarthria compressa populations and one Hemarthria japonica population from China were analyzed using inter simple sequence repeat (ISSR). Twelve primers amplified a total of 165 genomic DNA fragments across a total of 148 individuals of which 156 were polymorph...
journal_title:Hereditas
pub_type: 杂志文章
doi:10.1111/j.0018-0661.2008.02031.x
更新日期:2008-04-01 00:00:00