Abstract:
:Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen reading frame is encoded by a single exon, exon 15. Most identified APC mutations are at the 5' half of the APC open reading frame and are nucleotide substitutions and small deletions or insertions that result in truncation of the APC protein. Very few well-characterized gross alterations of APC have been reported. Patients with FAP typically develop hundreds to thousands of colorectal tumors beginning in their adolescence. A subgroup of patients with FAP who develop fewer tumors at an older age have what is called attenuated FAP (AFAP). Accumulating evidence indicates that patients carrying germline APC mutations in the first four coding exons, in the alternatively spliced region of exon 9, or in the 3' half of the coding region usually develop AFAP. We characterized two germline APC alterations that deleted the entire APC exon 15 as the result of 56-kb and 73-kb deletions at the APC locus. A surprising finding was that one proband had the typical FAP phenotype, whereas the other had a phenotype consistent with that of AFAP.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Su LK,Kohlmann W,Ward PA,Lynch PMdoi
10.1007/s00439-002-0758-7keywords:
subject
Has Abstractpub_date
2002-07-01 00:00:00pages
88-95issue
1eissn
0340-6717issn
1432-1203journal_volume
111pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220080
更新日期:1992-11-01 00:00:00
abstract::The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100504
更新日期:2001-06-01 00:00:00
abstract::Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-01993-y
更新日期:2019-04-01 00:00:00
abstract::Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278823
更新日期:1986-01-01 00:00:00
abstract::Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1338-8
更新日期:2013-12-01 00:00:00
abstract::Rearranged human chromosomes carrying segments of chromosome 11 were separated from the normal chromosome 11 by high-resolution chromosome sorting. Sorted chromosomes were tested with parathyroid hormone, beta-globin, insulin, and LDH-A gene-specific probes to determine the genes carried by each chromosome segment. Ba...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291648
更新日期:1985-01-01 00:00:00
abstract::Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0080-2
更新日期:2006-01-01 00:00:00
abstract::We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00195821
更新日期:1990-04-01 00:00:00
abstract::We previously identified a low-frequency (1.1 %) coding variant (G45R; rs200573126) in the adiponectin gene (ADIPOQ) which was the basis for a multipoint microsatellite linkage signal (LOD = 8.2) for plasma adiponectin levels in Hispanic families. We have empirically evaluated the ability of data from targeted common ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-014-1511-8
更新日期:2015-02-01 00:00:00
abstract::DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197153
更新日期:1991-08-01 00:00:00
abstract::Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283048
更新日期:1987-05-01 00:00:00
abstract::Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1339-3
更新日期:2005-10-01 00:00:00
abstract::A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278984
更新日期:1980-01-01 00:00:00
abstract::Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293042
更新日期:1985-01-01 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::Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286905
更新日期:1979-04-27 00:00:00
abstract::The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100571
更新日期:2001-08-01 00:00:00
abstract::Stroke is a common complex trait and does not follow Mendelian pattern of inheritance. Gene-gene or gene-environment interactions may be responsible for the complex trait. How the interactions contribute to stroke is still under research. This study aimed to explore the association between gene-gene interactions and s...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-009-0659-0
更新日期:2009-06-01 00:00:00
abstract::A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00390443
更新日期:1977-04-07 00:00:00
abstract::N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210758
更新日期:1992-09-01 00:00:00
abstract::A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291511
更新日期:1976-05-19 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
pub_type: 杂志文章
doi:10.1007/s00439-020-02248-x
更新日期:2021-01-12 00:00:00
abstract::Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214191
更新日期:1995-07-01 00:00:00
abstract::ATP-sensitive K+ (K(ATP)) channels maintain cardiac homeostasis under stress, as revealed by murine gene knockout models of the KCNJ11-encoded Kir6.2 pore. However, the translational significance of K(ATP) channels in human cardiac physiology remains largely unknown. Here, the frequency of the minor K23 allele of the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0731-9
更新日期:2009-12-01 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::This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1131-5
更新日期:2012-07-01 00:00:00
abstract::The size of the heterochromatic regions of chromosomes 1 and 16 was measured in a Test group of women with histories of recurrent spontaneous abortion and a Control group of fertile women. Measurements were made on Giemsa banded preparations and the euchromatic regions of 1q and 16q were used to correct for between-ce...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285399
更新日期:1983-01-01 00:00:00
abstract::Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051027
更新日期:2000-02-01 00:00:00
abstract::We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279093
更新日期:1986-08-01 00:00:00
abstract::Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278791
更新日期:1986-09-01 00:00:00