Abstract:
:A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restriction enzyme site was created in the exon-V-amplified DNA sequence; this site was present in the normal allele (M form) but absent in the Z form. Here, the design of the primer and the application of the designer primer for prenatal diagnosis of chorion villus samples (CVS) for AAT deficiency is described. The method provides a simple rapid means of prenatal diagnosis of AAT deficiency within a day of the collection of the CVS. The detection of the nucleotide base change in AAT deficiency at the Z mutation site provides the opportunity for accurate prenatal diagnosis where no tissue is available from an AAT-affected individual.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dry PJdoi
10.1007/BF00201739subject
Has Abstractpub_date
1991-10-01 00:00:00pages
742-4issue
6eissn
0340-6717issn
1432-1203journal_volume
87pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290954
更新日期:1986-04-01 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
pub_type: 杂志文章
doi:10.1007/s004390100553
更新日期:2001-07-01 00:00:00
abstract::Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702861
更新日期:1988-10-01 00:00:00
abstract::Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correctio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1801-z
更新日期:2017-07-01 00:00:00
abstract::A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273268
更新日期:1979-04-17 00:00:00
abstract::The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02048-y
更新日期:2019-10-01 00:00:00
abstract::Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02024-6
更新日期:2019-07-01 00:00:00
abstract::An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206956
更新日期:1994-12-01 00:00:00
abstract::Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00591080
更新日期:1987-02-01 00:00:00
abstract::TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278905
更新日期:1979-01-19 00:00:00
abstract::Three common alleles, epsilon2, epsilon3, and epsilon4, of the gene coding for apolipoprotein E (apoE) have been identified as predictors of interindividual variation in measures of lipid and lipoprotein metabolism, and ultimately risk of coronary heart disease (CHD), within many populations. Here we evaluated the uti...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050811
更新日期:1998-08-01 00:00:00
abstract::The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220089
更新日期:1992-11-01 00:00:00
abstract::The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000372
更新日期:2000-10-01 00:00:00
abstract::A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00389455
更新日期:1985-01-01 00:00:00
abstract::The selective staining of a single butyrylesterase, following isoelectric focusing of red cell lysates from 14 mammalian species, including man, was achieved using the chromogenic substrate N-acetyl-L-alanine-alpha-naphthyl ester. This procedure optimized the identification of this enzyme, and a close correspondence o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284657
更新日期:1983-01-01 00:00:00
abstract::To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050511
更新日期:1997-09-01 00:00:00
abstract::Using dual-laser sorted chromosomes and spot-blot analysis, we have previously assigned genomic DNA sequences coding for human alpha 1 (IV) procollagen to chromosome 13 (Pihlajaniemi et al. 1985). By in situ hybridization to normal chromosomes and chromosomes with 13q deletions, we now report the localization of this ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282074
更新日期:1986-10-01 00:00:00
abstract::Two antitubercular drugs, viz., isoniazid (INH) and para-aminosalicylic acid (PAS), in combination, were evaluated for their in vivo clastogenic effects of human lymphocyte chromosomes. Lymphocyte cultures from tuberculosis patients taking a therapeutic dose of INH and PAS for a period of not less than 3 months and fr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274696
更新日期:1981-01-01 00:00:00
abstract::We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209417
更新日期:1995-02-01 00:00:00
abstract::The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiolo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050605
更新日期:1997-12-01 00:00:00
abstract::A method based on a combination of cell culture and pharmacokinetic data is explored as a way of estimating the possible genetic risk to man from a mutagenic chemical. 8-methoxypsoralen, which is given to psoriasis patients as part of a photochemotherapy regime, is used, since it represents a 'real-life' situation and...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00277690
更新日期:1979-05-23 00:00:00
abstract::Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electropho...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274004
更新日期:1989-07-01 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::Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287055
更新日期:1980-01-01 00:00:00
abstract::NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1929-5
更新日期:2018-09-01 00:00:00
abstract::The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291506
更新日期:1976-05-19 00:00:00
abstract::In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050735
更新日期:1998-05-01 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
pub_type: 杂志文章
doi:10.1007/s00439-007-0390-7
更新日期:2007-09-01 00:00:00
abstract::Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1380-6
更新日期:2014-03-01 00:00:00
abstract::Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. The mouse invalidated for the Rps6ka3 (Rsk2-KO) gene displays learning and long-term spatial memory defi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0918-0
更新日期:2011-03-01 00:00:00