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G R Sutherland

Publications and source records attributed to G R Sutherland.

At least 487 records · Page 27Linked to original sources
PubMed1988

Interleukin-5 is at 5q31 and is deleted in the 5q- syndrome.

Human interleukin-5 (IL-5) is a selective eosinophilopoietic and eosinophil-activating growth hormone. By in situ hybridization this gene is mapped to chromosome 5q23.3 to 5q32. It is shown to be deleted in two patients with the 5q-syndrome and in one patient previously diagnosed with myelodysplasia whose condition had progressed to acute myeloblastic leukemia. The clustering of other genes involved in hematopoiesis (IL-3, granulocyte-macrophage colony-stimulating factor, feline sarcoma viral oncogene homolog, colony-stimulating factor 1) to the same region as IL-5 suggests a nonrandom localization and raises interesting questions concerning the evolution and regulation of these genes.

Aged↗
PubMed1988

5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.

The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect in X-linked sideroblastic anemia.

5-Aminolevulinate Synthetase↗
PubMed1988

Anonymous DNA probes to human chromosome 16 derived from a flow-purified library.

Anonymous DNA probes specific for human chromosome 16 were isolated from a flow-purified human chromosome 16 library. The library was constructed at the Lawrence Livermore National Laboratory. Twenty-nine clones containing a unique or low-copy DNA insert were isolated. Of these, six were assigned to chromosome 16 and regionally mapped and 12 were shown not to map to chromosome 16. One clone mapped to 16pter----16p13.1, one clone to 16p11.1----16q13, one clone to 16q13----16q22.1, and three clones to 16q22.1----16q24. An additional clone from the same library was mapped to 16q13----16q22.1.

Animals↗
PubMed1987

Fragile sites at 16q22 are not at the breakpoint of the chromosomal rearrangement in AMMoL.

There is much speculation about fragile sites on human chromosomes predisposing to specific chromosome rearrangements seen in cancer. Acute myelomonocytic leukemia is characterized by neoplastic chromosome rearrangements involving band 16q22 in patients who carry the rare fragile site at 16q22. This specific leukemic breakpoint is within the metallothionein gene cluster, which is here shown to be proximal to the rare fragile site (FRA16B) and to a common fragile site (FRA16C) in this region. Hence neither of these fragile sites are at the breakpoint in this leukemic chromosomal rearrangement.

Chromosome Fragile Sites↗
PubMed1987

Phenotypic variation in male-transmitted fragile X: genetic inferences.

Three families with confirmed and one family with suspected male transmission of the fragile X are presented, with psychological and physical assessment of all available members. The psychological tests used were the Peabody Picture Vocabulary test and Block Design which measured verbal and non-verbal abilities, respectively. Physical status was assessed by recording dysmorphic features and by anthropometric measurements. This study demonstrated that there are appreciable differences in mental and physical status within sibships of daughters of male carriers, as well as recognizable physical alterations and intellectual impairment in the transmitting males. These findings contradict the concept that there are two distinct categories of fragile X carriers: phenotypically normal as opposed to affected. They suggest instead that the defect may be graded and emphasize the importance of intellectual deficits and physical alterations in defining the fragile X phenotype, both in low-penetrant males and female heterozygotes.

Child↗
PubMed1987

Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.

Linkage data using the markers DXS51, F9, DXS15, and DXS52 are presented from 14 pedigrees segregating with the fragile X. Cytogenetic and DNA data were combined by two- or three-point linkage analysis for estimation of lod scores and carrier probabilities in potential carriers. Recombination frequencies (theta) corresponding to maximum z scores (zeta) were obtained for DXS51 (zeta = 3.45, theta = 0.0), DXS15 (zeta = 0.40, theta = 0.06), F9 (zeta = 3.15, theta = 0.09), and DXS52 (zeta = 3.60, theta = 0.11) with the fragile X. Considerable alterations to carrier probabilities occurred in some cases, especially when flanking markers were informative. The chance of mentally impaired offspring was reduced to 1% for five of eight women with prior carrier probabilities of 32%. Three pedigrees were identified in which mutation had possibly occurred. An alternative explanation for two of these was inheritance of the fragile X from normal males and for the other inheritance from a clinically normal woman. Probabilities were computed for each of these alternatives.

DNA↗
PubMed1987

A fertile man with tdic(Y;22): how a stable neo-X1X2Y sex-determining mechanism could evolve in man.

We describe a normal man with the karyotype: 45,X,dic(Y;22)(Ypter----Yq11.23::22p11.2----22qter+ ++). A brother and father of the propositus also had 45 chromosomes with the same dic(Y;22). Carriers of this chromosome are of normal phenotype, and the carrier of reproductive age had apparently normal fertility. A neo-X1X1X2X2/X1X2Y sex-determining mechanism can be considered to be operating in this family.

Chromosome Deletion↗
PubMed1987

Prenatal diagnosis of the fragile X using thymidine induction.

Eleven pregnancies in ten patients at risk for the fragile X were monitored by amniocentesis or chorion villus biopsy and induction of the fragile site using thymidine, methotrexate and FUdR. Three female fetuses and one male fetus were found to have the fragile X. The results obtained using thymidine induction were superior to those using methotrexate induction and probably better than those obtained using FUdR induction.

Adult↗
PubMed1987

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences.

The parental origin of five X isochromosomes were determined using 11 DNA markers. The isochromosome was derived from a maternal X chromosome in three cases and from a paternal X chromosome in two. Unexpected heterozygosity was detected for the proximal Xp region in one individual in whom the i(Xq) chromosome was paternally derived. This was confirmed by in situ hybridisation. A mode of formation of isochromosomes by breakage and reunion between the sister chromatids of the arms of an X chromosome is proposed to account for this. Sister chromatid breakage and reunion can be considered as a significant mechanism for the origin of i(Xq) chromosomes.

Chromosome Aberrations↗
PubMed1987

Mapping the human alpha globin gene complex to 16p13.2----pter.

The regional localisation of the alpha globin (HBA) complex on the short arm of chromosome 16 was investigated by in situ hybridisation, Southern blot analysis, and linkage analysis using the fragile site at 16p12.3 (FRA16A) and translocation breakpoints within band 16p13.1. HBA was found to be distal to the two translocation breakpoints within band 16p13.1 and not closely linked to FRA16A. In situ hybridisation to the distal portion of the fragment on metaphase chromosomes expressing the fragile site and the observation of considerable recombination between FRA16A and HBA supports a localisation for HBA closer to the telomere than to FRA16A, at 16p13.2----pter.

Chromosome Mapping↗
PubMed1987

Molecular genetics of human chromosome 16.

The major diseases mapped to chromosome 16 are adult polycystic kidney disease and those resulting from mutations in the alpha globin complex. There are at least six other less important genetic diseases which map to this chromosome. The adenine phosphoribosyltransferase gene allows for selection of chromosome 16 in somatic cell hybrids and a hybrid panel is available which segments the chromosome into six regions to facilitate gene mapping. Genes which have been mapped to this chromosome or which have had their location redefined since HGM8 include APRT, TAT, MT, HBA, PKD1, CTRB, PGP, HAGH, HP, PKCB, and at least 19 cloned DNA sequences. There are RFLPs at 13 loci which have been regionally mapped and can be used for linkage studies.

Adenine Phosphoribosyltransferase↗
PubMed1987

Painless glossopharyngeal "neuralgia" with syncope: a case report and literature review.

Glossopharyngeal neuralgia is an uncommon craniofacial pain syndrome. An association with syncope is even less common. We report a case illustrating that the glossopharyngeal neuralgia-syncope syndrome can occur without pain in the sensory distribution of the glossopharyngeal nerve and that it can have similar consequences. We suggest that permanent cardiac pacing alone may be a viable option in the initial management of such cases.

Aged↗
PubMed1987

Localization of the G-CSF gene on chromosome 17 proximal to the breakpoint in the t(15;17) in acute promyelocytic leukemia.

The human granulocyte-colony stimulating factor gene (G-CSF) is localized at 17q11.2-q21, the region of one of the breakpoints in the 15;17 chromosome translocation specific for acute promyelocytic leukemia (APL). As G-CSF induces differentiation and loss of tumorigenicity in myeloid leukemic cells or cell lines, it was possible that the translocation in APL involved the DNA of the G-CSF coding region or its regulatory region. In situ hybridization to chromosomes with the t(15;17) from patients with the APL translocation using a G-CSF cDNA clone revealed that the coding region of this gene is proximal to the t(15;17) breakpoint on chromosome 17. Southern analysis of DNA from patients with the APL translocation showed no differences in hybridization between normal and leukemic cells. These results indicate that the G-CSF coding sequence is not disrupted by the chromosomal rearrangement characteristic of APL.

Acute Disease↗