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 that there are at least two haplotypes which occur predominantly on PKU chromosomes and rarely otherwise. Overall, the relative frequencies of the various haplotypes are significantly different on PKU- and normal-allele bearing chromosomes, even though there is no predominantly occurring unique haplotype which can characterize the PKU chromosomes. In addition, no significant association (linkage disequilibrium) between any single polymorphic site and the mutant allele(s) was observed. The results suggest that either the phenylketonuric mutation was very ancient so that the polymorphic sites and the mutation have reached linkage equilibrium or the mutant allele(s) are the results of multiple mutations in the phenylalanine hydroxylase gene in man. Furthermore, a crude relationship between standardized linkage disequilibria and physical map distances of the polymorphic sites indicates that there is no apparent recombination hot-spot in the human phenylalanine hydroxylase gene, since the recombination rate within the locus appears to be uniform and likely to be occurring at a rate similar to that within the HLA gene cluster. The limitations of this later analysis are discussed in view of the sampling errors of disequilibrium measure used, and the potential utility of the PAH haplotypes for prenatal diagnosis and detection of PKU carriers is established.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SLdoi
10.1007/BF00283048subject
Has Abstractpub_date
1987-05-01 00:00:00pages
40-6issue
1eissn
0340-6717issn
1432-1203journal_volume
76pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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::A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270570
更新日期:1984-01-01 00:00:00
abstract::A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282088
更新日期:1986-10-01 00:00:00
abstract::The use of two genomic EcoRI fragments as probes is discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291180
更新日期:1989-06-01 00:00:00
abstract::Two previous single case reports from the literature showed the presence or absence of centromeric antigens at the site of the inactive centromeres in one (X;X) and in one (9;11) dicentric chromosome. We studied nine different dicentric chromosomes using anticentromeric antibodies and immunofluorescence techniques. In...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292655
更新日期:1986-05-01 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::Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for alpha1-antitrypsin (alpha1AT) variants by electrophoresis on agarose-polyacrylamide gels at pH 4.7 and isoelectric focusing (IEF). The frequencies of the Pi (Protease i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00393613
更新日期:1977-07-26 00:00:00
abstract::Pericentromeric regions of human chromosomes are preferential sites for the integration of duplicated DNA, or "duplicons", which often contain gene fragments. Although pericentromeric regions appear to be genomic junkyards, they could also be the birthplace of new genes with novel functions. We have characterized a ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0827-y
更新日期:2003-01-01 00:00:00
abstract::A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396478
更新日期:1978-07-12 00:00:00
abstract::The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286716
更新日期:1989-09-01 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::We have examined the c-Ha-ras locus in 145 cancer patients of a mixed group and 164 normal individuals in Japan for restriction fragment length polymorphisms and compared the allele distributions in normal and cancer populations. The c-Ha-ras gene is highly polymorphic in Japanese as previously reported in Caucasians....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282164
更新日期:1988-08-01 00:00:00
abstract::Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210292
更新日期:1995-12-01 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
pub_type: 杂志文章
doi:10.1007/s00439-002-0715-5
更新日期:2002-05-01 00:00:00
abstract::The genomic components identified by each of two closely related cDNA clones for the major 35 kilodalton non-serum surfactant-associated proteins (PSP-A) were shown to derive from human chromosome 10 by Southern blot analysis of DNAs from human-rodent somatic cell hybrids. By in situ hybridization to human metaphase c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283051
更新日期:1987-05-01 00:00:00
abstract::The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00420946
更新日期:1993-12-01 00:00:00
abstract::In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293893
更新日期:1989-01-01 00:00:00
abstract::DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284577
更新日期:1985-01-01 00:00:00
abstract::Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569706
更新日期:1982-01-01 00:00:00
abstract::Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01213088
更新日期:1991-05-01 00:00:00
abstract::Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291429
更新日期:1987-12-01 00:00:00
abstract::This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273289
更新日期:1979-04-17 00:00:00
abstract::A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281070
更新日期:1987-03-01 00:00:00
abstract::A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270403
更新日期:1976-01-28 00:00:00
abstract::A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217355
更新日期:1993-05-01 00:00:00
abstract::Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100459
更新日期:2001-03-01 00:00:00
abstract::It is commonly acknowledged that estimates of heritability from classical twin studies have many potential shortcomings. Despite this, in the post-GWAS era, these heritability estimates have come to be a continual source of interest and controversy. While the heritability estimates of a quantitative trait are subject ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1334-z
更新日期:2013-12-01 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::Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained prep...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291326
更新日期:1982-01-01 00:00:00
abstract::Population and family studies have confirmed the existence of a plasma alpha-L-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estimated at 11%. The low activity individuals or variants can also be distinguished by the fact that their ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293058
更新日期:1981-01-01 00:00:00