Phage 8-10 identifies an RFLP on 11q23-qter [HGM9 no. D11S286].
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Chromosomes, Human, Pair 11↗
Biomedical subjects
C Jones
Publications and source records attributed to C Jones.
Left ventricular filling in sickle cell anemia.
M-mode echocardiography was performed on 11 normal black subjects and 38 patients with sickle cell anemia while they were at rest to evaluate their left ventricular (LV) systolic and diastolic function. The patients with sickle cell anemia were also evaluated by radionuclide exercise tests and, based on their ejection fraction (EF) response, were separated into 2 groups: a group with a normal EF response to exercise (73 +/- 9%, mean +/- standard deviation) and a group with an abnormal EF response to exercise (53 +/- 9%). Computer-assisted analysis of the M-mode echocardiograms identified abnormalities of diastolic function (impaired left ventricular filling) in patients with sickle cell anemia compared with the normal subjects. The abnormal EF response group had significantly more impaired diastolic function and did less exercise than the normal EF response group. Both groups of patients had a decrease in left ventricular end-diastolic volume during exercise. The patients with sickle cell anemia had abnormalities of systolic and diastolic function on echocardiographic and radionuclide testing. The abnormalities in diastolic and systolic function assumed greater significance at the increased heart rates associated with exercise, accounting for the decrease in left ventricular end-diastolic volume and the abnormal EF response, and contributed to exercise intolerance in patients with sickle cell anemia.
Adult↗
Association of double NOR variant with Turner syndrome.
A study was made of the possible association of double nucleolus organizers (dNORs) with Turner syndrome. Occurrence of dNORs was determined using the silver staining method of Goodpasture and Bloom [1975]. In 45 control subjects, the incidence of dNORs was 8.8%. Studies were done on 33 Turner syndrome patients. In 28 cases with 45,X or 45,X/46,XX karyotypes, the incidence of the dNOR variant was 50%. Five cases of Turner syndrome with X rings or X isochromosomes were negative for dNORs. Analysis of the data indicates an association between the dNOR variant and the occurrence of Turner syndrome. It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome in meiosis or in mitotic divisions during early gestation.
Chromosome Aberrations↗
The coding sequence for the human 18,000-dalton hydrophobic pulmonary surfactant protein is located on chromosome 2 and identifies a restriction fragment length polymorphism.
The 18-kd hydrophobic pulmonary surfactant protein (PSP-B) is a developmentally regulated protein which is important for normal lung function. A complementary DNA probe for 221 NH2 terminal amino acids of PSP-B was used to determine the chromosomal location of this gene and identify a restriction fragment length polymorphism (RFLP). Southern blot hybridization to genomic DNA isolated from a panel of human-CHO somatic cell hybrids unambiguously maps this gene to chromosome 2. Human DNA cut with BamHI yields a RFLP with variable bands at 2.8 and 2.6 kb. Since there is a relative lack of polymorphic markers for chromosome 2, this sequence may be useful in linkage analysis.
Animals↗
Chromosome mapping of biological pathways by fluorescence-activated cell sorting and cell fusion: human interferon gamma receptor as a model system.
Human chromosome 6 encodes both the interferon gamma receptor as well as the class I major histocompatibility complex antigens, HLA-A, -B, and -C. However, the presence of chromosome 6 in somatic cell hybrids is insufficient to confer sensitivity to human interferon gamma (Hu-IFN-gamma) as assayed by class I HLA induction; it is necessary for both human chromosomes 6 and 21 to reside in the hybrid to generate a response to Hu-IFN-gamma. Treatment of such a hamster-human hybrid, Q72-18, with Hu-IFN-gamma induces the class I HLA antigens. Q72-18 cells selected by fluorescence-activated cell sorting for the loss of class I HLA induction also lost human chromosome 21. Fusions of such cells to a hybrid that contains only human chromosome 21 reconstitutes HLA antigen induction by Hu-IFN-gamma. Furthermore, fusions of hybrids containing a translocated human chromosome 6q and the HLA-B7 gene to a line containing only human chromosome 21 or a translocated 21q also reconstitutes HLA-B7 mRNA and antigen induction by Hu-IFN-gamma. Thus the segregation of cells on the basis of a biological effect by fluorescence-activated cell sorting and reconstitution by hybrid fusion provides a strategy by which some biological pathways can be mapped at a chromosomal level.
Blotting, Northern↗
Partial physical map of human chromosome 21.
The long arm of human chromosome 21 has been analyzed with unique sequence DNA probes, using an expanded panel of somatic cell hybrids containing defined regions of the chromosome, and both standard and pulsed field gel electrophoresis. Each member of the hybrid cell panel contains either a normal chromosome 21, or one of 11 different translocations or deletions within the long arm. Together, these now include 11 breakpoints, defining 11 long arm regions. Thirty-two unique sequence probes have been localized to these regions by standard gel electrophoresis. Analysis by pulsed field gels indicates that 27 of these identify a total of 18 Not1 restriction fragments, which together account for approximately 17 million base pairs, over half the long arm. Five physical linkage groups have been identified, as well as patterns in the distribution of unique sequences and GC-rich chromosomal regions. This information can be correlated with that obtained by other methods and contributes to the construction of a detailed physical map of this chromosome.
Chromosome Mapping↗
Vaginal birth after cesarean section: results of a multicenter study.
Cesarean section is now the most frequently performed major operation in the United States. Nearly one out of every four American babies is delivered by this operation. "Elective repeat" has become the most common indication for cesarean section. Although the safety of vaginal birth after cesarean section has been documented in several recent publications, automatic repeat cesarean section remains the rule in this country. We present one of the largest series of trial of labor ever reported. Of 57,553 live births, 4929 (8.6%) were of women with prior cesarean sections. Among 1776 patients who underwent a trial of labor, 1314 (74%) delivered vaginally. There was no maternal or perinatal mortality related to uterine scar rupture. Thus during the study period 1314 major operations were avoided. We conclude that, for the vast majority of women, allowing a trial of labor is a safe alternative to automatic elective repeat cesarean section.
Adult↗
Biochemical changes in rhesus monkey during the first days after streptozotocin administration are indicative of selective beta cell destruction.
Hormonal and glycemic changes in 22 rhesus monkeys were characterized during the first days after treatment with streptozotocin (STZ) (45 to 55 mg/kg, administered intravenously [IV]). Almost half (10/22) of the monkeys developed insulin-dependent diabetes mellitus (STZ-IDDM) within five days following injection. Four of the remaining monkeys did not become insulin dependent for at least 6 months after STZ treatment, during which time they were considered non-insulin-dependent, and eight monkeys never required exogenous insulin. In the STZ-IDDM group, plasma immunoreactive c-peptide (IRC-P) levels fell by three hours after STZ from a mean +/- SEM of 252 +/- 82 to 101 +/- 45 pg/mL, as glucose and immunoreactive glucagon (IRG) levels increased from 65 +/- 3 and 120 +/- 37, respectively, to 336 +/- 43 mg/dL and 234 +/- 52 pg/mL, respectively. Between six and 30 hours after treatment, IRC-P increased to a peak of 1,561 +/- 360 pg/mL before falling permanently to less than 60 pg/mL by 66 hours. During this period, glucose and IRG responded in a reciprocal fashion by falling and then increasing to levels above 300 mg/dL and 300 pg/mL, respectively, by 66 hours. In the non-insulin-dependent diabetes mellitus (STZ-NIDDM) group, no clear reciprocal relationship between IRC-P and glucose and IRG was obtained. In nine additional monkeys subjected to total pancreatectomy (Px), IRC-P and IRG levels fell immediately and permanently by greater than 90% and 75%, respectively. Levels of immunoreactive somatostatin increased steadily over the initial 96 hours following STZ, but did so both STZ-IDDM and Px monkey groups.(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
A primary genetic map of markers of human chromosome 10.
We have constructed a primary genetic map for human chromosome 10 from 13 polymorphic marker systems defining 11 loci, using a new gene mapping algorithm implemented in the computer program GMS. The loci form a continuous genetic map that spans approximately 116 cM in males and 170 cM in females. These loci provide regularly spaced anchor points for linkage studies, except for one interval that is 28 cM in males and 64 cM in females.
Algorithms↗
Seven polymorphic loci mapping to human chromosomal region 11q22-qter.
Seven polymorphic loci that map to human chromosomal region 11q22-qter are revealed by DNA probes isolated from a chromosome-specific phage library constructed from a human X mouse somatic cell hybrid that has retained an 11q;16q translocation as the only human DNA. Three probes, each of which reveals a two-allele polymorphism, and four probes, each of which detects two linked RFLPs, have been characterized. Using a somatic cell hybrid mapping panel that divides 11q into four discrete sections, the seven clones have been localized to specific chromosomal regions. Localization of one of the clones has been confirmed and refined by in situ hybridization.
Animals↗
An extended genetic linkage map of markers for human chromosome 10.
We have extended, in both directions, our recently published genetic map of markers for human chromosome 10 by the addition of 10 newly defined arbitrary loci. The map now covers 230 cM in males and 329 cM in females. In addition, three new markers, one of them a new RFLP at the IRBP gene locus, have been mapped in the vicinity of the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). A significantly higher frequency of recombination in males than in females was observed near both ends of the new map.
Chromosome Mapping↗
A subfamily of alphoid repetitive DNA shared by the NOR-bearing human chromosomes 14 and 22.
The nucleotide sequence of members of an alpha-repeat subfamily shared by human chromosomes 14 and 22 is presented. This subfamily is organized into a higher-order repeat unit composed of a tandem repetition of an ordered array of four related but distinct 340-bp repeat dimers. An analogous situation has been described for a related but distinct subfamily shared by chromosomes 13 and 21. These two subfamilies were further shown not to be present on the homologous chimpanzee chromosomes and therefore must have arisen by rearrangement of the human genome after separation of the two species. The sequence homology between the 13/21 and the 14/22 subfamilies is about 85%. The 14/22 subfamily represents the only major alphoid DNA species on these two chromosomes and is not present elsewhere in the human genome. Fluorescent in situ hybridizations show that sequences from the 13/21 and 14/22 subfamilies can be used as specific markers for their respective chromosomes.
Animals↗
Homozygous deletion of a DNA marker from chromosome 11p13 in sporadic Wilms tumor.
A random DNA fragment, probe p2.3 (locus D11S87), was cloned from the 11p13 region between a translocation breakpoint associated with familial aniridia and another translocation breakpoint associated with childhood T-cell leukemia. The D11S87 locus maps between the catalase (CAT) locus and the beta subunit of follicle stimulating hormone (FSHB). The D11S87 locus is deleted in a Wilms tumor patient with a constitutional deletion of 11p and in a case of sporadic Wilms tumor (WiT-13) apparently with normal karyotype. In the WiT-13 tumor both maternal and paternal chromosomes 11 are retained; D11S87 is deleted homozygously and FSHB hemizygously. These results suggest two mutational events resulting in homozygous deletion in this patient. The D11S87 homozygous deletion was also demonstrated in WiT-13 nude mouse heterotransplants and in fibroblast-like cell line derived from the primary tumor. The minimum size of the deletion was estimated to be 30 kb as determined by cosmid screening and hybridization. As homozygous deletions in the 11p13 region have not been previously reported for sporadic Wilms tumors, these findings place the D11S87 locus within or approximate to the Wilms tumor gene.
Blotting, Southern↗
The hemopexin gene maps to the same location as the beta-globin gene cluster on human chromosome 11.
Using human hemopexin cDNA clones isolated from lambda gt11 cDNA library as probes, we have carried out Southern blot analysis of a series of human-Chinese hamster somatic cell hybrids containing different combinations of human chromosomes. Synteny analysis revealed 100% concordance between the hemopexin gene and human chromosome 11. In situ hybridization of 3H-labeled hemopexin cDNA to metaphase chromosomes prepared from human lymphocytes further localized the gene to the region p15.4-p15.5, the same location as the beta-globin gene cluster.
Animals↗
Localization and DNA sequence analysis of the transforming domain (mtrII) of human cytomegalovirus.
To define the morphological transforming region II (mtrII) of human cytomegalovirus (HCMV), a series of subclones of the Xba I/BamHI fragment EM was constructed in vitro and tested for focus-forming activity and tumorigenicity. A 980-base-pair subclone of fragment EM was identified, and its nucleotide sequence revealed three small open reading frames (ORFs), encoding 79, 83, and 34 amino acid residues. S1 nuclease analysis of HCMV-infected cells identified several distinct early RNA species within mtrII, two of which (P1 and P2) were of particular interest, since the length of the protected DNA fragments would position the 5' end of the RNAs upstream of the open reading frames. In addition, the 980-base-pair transforming sequence revealed DNA elements capable of forming stem-loop structures. Thus the transforming mtrII domain of HCMV strain Towne contains both small open reading frames that are expressed in lytically infected cells and sequences resembling insertion-like structures that may be involved in transformation.
Animals↗
Do lethal mutations influence radiation transformation frequencies?
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Animals↗
Avidity of IgA antibody to Escherichia coli polysaccharide and diphtheria toxin in breast milk from Swedish and Pakistani mothers.
The avidity of breast milk IgA antibody was studied with the aid of thiocyanate elution of antibody from solid-phase bound E.coli polysaccharides and diphtheria toxoid. The relative avidity index for each sample was determined by the molarity of thiocyanate required to elute 50% of the bound IgA antibody under conditions of antigen excess. Milk samples collected from Pakistani mothers during early lactation (2-4 weeks after delivery; n = 12) had a significantly lower median relative avidity index of IgA antibody to E.coli antigens than did early lactation samples from Swedish mothers (n = 11; avidity indices 1.78 M and 2.65 M; P less than 0.02). Samples collected from Pakistani mothers in mid-lactation showed a significant rise in the relative avidity index to a median of 2.50 M (P less than 0.01), with a subsequent fall in late lactation (28-36 weeks after delivery) to 1.75 M (P less than 0.01). Milk samples from Pakistani mothers in mid-lactation (n = 12) also had a lower median relative avidity index of IgA antibody to diphtheria toxoid than did samples from Swedish mothers (n = 14; avidity indices 2.35 M and 4.30 M; P less than 0.002). The lower avidity of breast milk IgA in Pakistani mothers in comparison with Swedish mothers may arise from differences in antigen exposure or nutritional status or could possibly be genetically determined.
Antibody Affinity↗
Idiopathic retroperitoneal fibrosis--is serum alkaline phosphatase a marker of disease activity?
Two patients are presented in whom extensive investigations were carried out to determine the cause of a raised serum alkaline phosphatase. Idiopathic retroperitoneal fibrosis was diagnosed in both cases and the serum alkaline phosphatase returned to normal following treatment with corticosteroids and coincident with resolution of the patients' symptoms.
Alkaline Phosphatase↗