Abstract：
:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tested in a 5-year period represented 35.1% of the pregnancies in the Rochester metropolitan region. A hemoglobinopathy was found in 810 pregnancies (4.3%). Of the 21 different types of hemoglobinopathies detected, the most common were sickle cell trait (59%), hemoglobin C trait (19%), beta-thalassemia trait (11%), and hemoglobin E trait (5%). At the time of phlebotomy, 75% of the pregnancies were of less than 18 wk duration. Sixty-six percent of the pregnancies occurred in patients unaware of their diagnosis, and 80% occurred in patients unaware that they might be at risk for a child with a serious blood disorder. Of the 810 positive pregnancies, 551 (68%) occurred in patients who came for counseling. Of 453 women counseled during their first screened pregnancy, 390 (86%) said they wanted their partners tested and 254 (55%) had their partner tested. In the 77 pregnancies thus found to be at risk, the couple was too late for prenatal diagnosis in 12 cases, and the condition for which the fetus was at risk was too mild in 12 cases. Prenatal diagnosis was offered in the remaining 53 pregnancies and was accepted by 25 couples (47%). These results indicate that unselected patients in the primary care setting in this region, even though pregnant, are receptive to and utilize genetic information.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra Asubject
Has Abstractpub_date
1991-03-01 00:00:00pages
439-46issue
3eissn
0002-9297issn
1537-6605journal_volume
48pub_type
杂志文章abstract：:Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic tes...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2018.07.001
更新日期：2018-08-02 00:00:00
abstract：:Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-03-01 00:00:00
abstract：:Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-05-01 00:00:00
abstract：:Génin and Clerget-Darpoux recently discussed the derivation of the probabilities of identity states for populations in which there was some degree of kinship, primarily to allow the extension of the classical affected-sib-pair method to such populations. It is argued here that their derivation makes certain assumption...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301743
更新日期：1998-03-01 00:00:00
abstract：:Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-08-01 00:00:00
abstract：:Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one tandem run of a trinucleotide predominates. A search of human GenBank sequence revealed that the sequences of cRRY(i) are ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
abstract：:We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome inactivation. Tiling ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2009.10.019
更新日期：2009-12-01 00:00:00
abstract：:Alpha-globin gene cluster haplotypes were determined in Southern African San and negroid populations. Significant differences (P less than .01) between the two groups were found at three of the nine loci in the cluster. The most striking difference, however, was the relatively low level of variation found in the San (...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
abstract：:Sudden cardiac death is responsible for half of all deaths from cardiovascular disease. The analysis of the electrophysiological substrate for arrhythmias is crucial for optimal risk stratification. A prolonged T-peak-to-Tend (Tpe) interval on the electrocardiogram is an independent predictor of increased arrhythmic r...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2020.04.009
更新日期：2020-06-04 00:00:00
abstract：:We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/368263
更新日期：2003-03-01 00:00:00
abstract：:The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be o...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-10-01 00:00:00
abstract：:The extended Simes' test (known as GATES) and scaled chi-square test were proposed to combine a set of dependent genome-wide association signals at multiple single-nucleotide polymorphisms (SNPs) for assessing the overall significance of association at the gene or pathway levels. The two tests use different strategies...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.08.004
更新日期：2012-09-07 00:00:00
abstract：:Recent advances in genome technology have led to mapping and subsequent isolation, by positional cloning, of a number of genes for common and/or complex human diseases. It therefore will be possible to utilize information about a known locus in the search for additional, perhaps less penetrant, genes for a particular ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1997-05-01 00:00:00
abstract：:In the present work, we demonstrate the possibility of using human blood platelets as mitochondrial donors for the repopulation of mtDNA-less (rho 0) cells. The noninvasive nature of platelet isolation, combined with the prolonged viability of platelet mitochondria and the simplicity and efficiency of the mitochondria...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-06-01 00:00:00
abstract：:Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/368230
更新日期：2003-03-01 00:00:00
abstract：:Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympan...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/426061
更新日期：2004-12-01 00:00:00
abstract：:A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiolog...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-07-01 00:00:00
abstract：:We screened DNA from unrelated individuals for RFLPs in the muscle nicotinic acetylcholine receptor (AcChoR) genes. These RFLP markers can be used for genetic linkage and association studies to test the hypothesis that receptor structure or regulation is involved in the development of myasthenia gravis (MG). The cDNAs...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-05-01 00:00:00
abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/379155
更新日期：2003-11-01 00:00:00
abstract：:The poly(ADP-ribose) polymerase (PADPRP) gene (13q33-qter) depicts a two-allele (A/B) polymorphism. In the noncancer population, the frequency of the B allele is higher among blacks than among whites. Since the incidence of multiple myeloma and prostate and lung cancer is higher in the U.S. black population, we have a...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000-1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design ...
journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：10.1086/432962
更新日期：2005-09-01 00:00:00
abstract：:Estimation of recombination fractions and interference coefficients is of importance in multilocus linkage analysis. With the development of molecular genetic technologies such as RFLP, multilocus data are readily available to researchers. Several methods have been developed to analyze such data, and each performs wel...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-08-01 00:00:00
abstract：:We present a full-likelihood method to infer polygenic adaptation from DNA sequence variation and GWAS summary statistics to quantify recent transient directional selection acting on a complex trait. Through simulations of polygenic trait architecture evolution and GWASs, we show the method substantially improves powe...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2020.12.005
更新日期：2021-01-08 00:00:00
abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...
journal_title：American journal of human genetics
pub_type： 杂志文章,meta分析
doi：10.1016/j.ajhg.2016.04.013
更新日期：2016-07-07 00:00:00
abstract：:Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chro...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-06-01 00:00:00
abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/373965
更新日期：2003-04-01 00:00:00
abstract：:Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Three unrelated PH1 patients, who possess a novel complex phenotype, are described. At the enzymological level, this phenotype is character...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
abstract：:Despite the growing consensus on the importance of testing gene-gene interactions in genetic studies of complex diseases, the effect of gene-gene interactions has often been defined as a deviance from genetic additive effects, which is essentially treated as a residual term in genetic analysis and leads to low power i...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/508571
更新日期：2006-11-01 00:00:00
