The gene for human interleukin 7 (IL7) is at 8q12-13.

abstract：:Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...

journal_title：Human genetics

authors： Graw J

更新日期：2019-09-01 00:00:00

abstract：:The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...

journal_title：Human genetics

authors： Vorsanova SG,Yurov YB,Kurbatov MB,Kazantzeva LZ

更新日期：1990-12-01 00:00:00

abstract：:There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...

journal_title：Human genetics

authors： Soares PA,Trejaut JA,Rito T,Cavadas B,Hill C,Eng KK,Mormina M,Brandão A,Fraser RM,Wang TY,Loo JH,Snell C,Ko TM,Amorim A,Pala M,Macaulay V,Bulbeck D,Wilson JF,Gusmão L,Pereira L,Oppenheimer S,Lin M,Richards MB

更新日期：2016-03-01 00:00:00

abstract：:Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside...

journal_title：Human genetics

authors： Li Z,Li R,Chen J,Liao Z,Zhu Y,Qian Y,Xiong S,Heman-Ackah S,Wu J,Choo DI,Guan MX

更新日期：2005-06-01 00:00:00

abstract：:Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...

journal_title：Human genetics

authors： Kalousek DK,Dill FJ,Pantzar T,McGillivray BC,Yong SL,Wilson RD

更新日期：1987-10-01 00:00:00

abstract：:In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and...

journal_title：Human genetics

authors： Yao YG,Watkins WS,Zhang YP

更新日期：2000-11-01 00:00:00

abstract：:The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(...

journal_title：Human genetics

authors： Motegi T

更新日期：1981-01-01 00:00:00

abstract：:In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.59 in familial late- and early-onset cases. Sporadic cases had lower frequencies, but they st...

journal_title：Human genetics

authors： Poduslo SE,Riggs D,Schwankhaus J,Osborne A,Crawford F,Mullan M

更新日期：1995-11-01 00:00:00

abstract：:The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...

journal_title：Human genetics

authors： Dryja TP,Rapaport JM,Weichselbaum R,Bruns GA

更新日期：1984-01-01 00:00:00

abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

journal_title：Human genetics

authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

更新日期：1996-03-01 00:00:00

abstract：:We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

journal_title：Human genetics

authors： Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

更新日期：1994-01-01 00:00:00

abstract：:Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...

journal_title：Human genetics

authors： Babbs C,Heller R,Everman DB,Crocker M,Twigg SR,Schwartz CE,Giele H,Wilkie AO

更新日期：2007-09-01 00:00:00

abstract：:Haptoglobin phenotypes of 1121 unrelated Chinese blood donors in Beijing were determined. The gene frequency of Hp1 was 0.270. A rare variant, which we identified as Hp1S-J, was found. Two hundred and two samples of this population were submitted to haptoglobin subtyping, and no Hp1F allele was found among them. ...

journal_title：Human genetics

authors： Liang CC,Qi ZB,Ying QL,Wang LF

更新日期：1983-01-01 00:00:00

abstract：:Although several studies have demonstrated familial aggregation of nonsyndromic cleft palate (CP), the mode of inheritance still remains uncertain. We report the results of complex segregation analysis performed in families of 357 consecutive newborns affected with nonsyndromic CP (i.e., CP not a component feature of ...

journal_title：Human genetics

authors： Clementi M,Tenconi R,Forabosco P,Calzolari E,Milan M

更新日期：1997-08-01 00:00:00

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

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

abstract：:Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...

journal_title：Human genetics

authors： Bedin M,Weil D,Fournier T,Cedard L,Frezal J

更新日期：1981-01-01 00:00:00

abstract：:We have recently obtained evidence that the locus corresponding to three groups of partial tracheobronchial cDNAs (A = Jer47, B = Jer57, C = Jer58) which mapped to chromosome 11p15 and was given the symbol MUC5 corresponds to two distinct genes which we have provisionally called MUC5B and MUC5AC. Here we describe the ...

journal_title：Human genetics

authors： Pigny P,Pratt WS,Laine A,Leclercq A,Swallow DM,Nguyen VC,Aubert JP,Porchet N

更新日期：1995-09-01 00:00:00

abstract：:Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...

journal_title：Human genetics

authors： Oosthuizen CJ,Herbert JS,Vermaak LK,Brusnicky J,Fricke J,du Plessis L,Retief AE

更新日期：1990-07-01 00:00:00

abstract：:PAX2 is a member of the PAX multigene family encoding transcription factors active in specific tissues during embryogenesis. Several PAX/Pax genes (PAX and Pax describe homologous genes in human and mice, respectively) have been shown to possess critical morphogenetic functions as identified by the analysis of mice ta...

journal_title：Human genetics

authors： Tavassoli K,Rüger W,Horst J

更新日期：1997-12-01 00:00:00

abstract：:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...

journal_title：Human genetics

authors： Kim H,Kim SY,Joly Y

更新日期：2018-08-01 00:00:00

abstract：:Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding,...

journal_title：Human genetics

authors： Tonini MM,Lemmers RJ,Pavanello RC,Cerqueira AM,Frants RR,van der Maarel SM,Zatz M

更新日期：2006-03-01 00:00:00

abstract：:Admixture mapping is a potentially powerful tool for mapping complex genetic diseases. For application of this method, admixed individuals must have genomes composed of large segments derived intact from each founding population. Such segments are thought to be present in African Americans (AA) and should be demonstra...

journal_title：Human genetics

authors： Collins-Schramm HE,Chima B,Operario DJ,Criswell LA,Seldin MF

更新日期：2003-08-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 00:00:00

abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:Prior to the isolation of mammalian DNA repair genes and identification of their gene products, the comparison between the bacterial SOS response and various similar reactions in mammalian cells remains rather speculative. The increasing number of observed phenomena including enhanced DNA repair, virus induction, indu...

journal_title：Human genetics

authors： Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

更新日期：1984-01-01 00:00:00

abstract：:Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity (LOH) is a common phenomenon in this neoplasia, it only accounts for part of the somatic NF1 mutations found. Somatic point mutations or the presence of "two h...

journal_title：Human genetics

authors： Serra E,Ars E,Ravella A,Sánchez A,Puig S,Rosenbaum T,Estivill X,Lázaro C

更新日期：2001-05-01 00:00:00

abstract：:A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...

journal_title：Human genetics

authors： Petersen GB,Sørensen IJ,Buskjaer L,Lamm LU

更新日期：1979-01-01 00:00:00

abstract：:Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...

journal_title：Human genetics

authors： Ruano CSM,Apicella C,Jacques S,Gascoin G,Gaspar C,Miralles F,Méhats C,Vaiman D

更新日期：2021-01-12 00:00:00

abstract：:Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...

journal_title：Human genetics

authors： Ko YL,Chen SA,Tang TK,Lin JL,Chiang CE,Chen JJ,Teng MS,Chang MS,Lien WP,Wu CW

更新日期：1994-10-01 00:00:00

abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

journal_title：Human genetics

authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

更新日期：2006-02-01 00:00:00