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Biomedical subjects

M Baird

Publications and source records attributed to M Baird.

At least 55 records · Page 3Linked to original sources
PubMed1984

Gene analysis in delta beta and delta (0) thalassemia.

Restriction mapping of the globin genes from a homozygous delta beta thalassemia patient from Israel indicates that at least a 10-kilobase deletion is present extending 3' from within the large intervening sequence (IVS 2) of the delta globin gene and including the entire beta globin gene. Unique bands are seen when cellular DNA from this patient is digested with a variety of restriction endonucleases and hybridized with a probe specific for the delta IVS 2. Extensive analysis of the Israeli delta beta thalassemia DNA as well as material from an Italian delta beta thalassemia homozygote with enzymes which cleave more frequently in delta IVS 2 has localized the 5' end of the deletion to a 107-base pair region within delta IVS 2. This region contains a unique repetitive sequence (TG)4 which has been reported to be a specific recognition signal for recombination and may be involved in the formation of these mutant genes. Two homozygous delta(0) thalassemia DNA samples from Japan were also analyzed for gene rearrangements or other changes by restriction enzyme mapping. No changes from normal were seen using 14 different enzymes indicating the absence of large deletions in the region around the delta globin gene. More specifically, both the 5' and 3' splice junctions of the IVS 2 appear to be normal from hybridization of restriction fragments generated by HphI and AluI, respectively, with a delta IVS 2 specific probe. We have also shown that point mutations which could lead to termination codons are not present at codons 35, 37, 43, 61, and 121, since restriction enzymes which recognize these sites produce normal patterns. The delta(0) thalassemia phenotype in these two subjects is most likely due to a point mutation either at one of the other 24 potential termination codons not accessible to restriction analysis or to other single nucleotide changes which could either decrease delta globin gene transcription or lead to abnormal processing or transport of delta globin mRNA.

Base Sequence↗
PubMed1983

Adult respiratory distress syndrome: risk with common predispositions.

A 1-year survey of patients in three hospitals identified 936 patients who had one predisposition and 57 who had several predispositions to the adult respiratory distress syndrome. From the total predisposed population of 993 patients, 68 subsequently developed the syndrome. An additional 20 patients developed the syndrome from causes other than eight identified predispositions, to bring the total of patients studied to 88. A highly significant difference (p less than 0.0001) was found in the incidence rates of the syndrome between patients with one and several predispositions (5.8 versus 24.6 per 100 patients). Within 72 hours of onset of predisposition, 89.5% of patients who developed the syndrome had been intubated and placed on mechanical ventilation. Fifty-seven of the 88 patients (64.8%) with the syndrome died. By the 14th day 90% of deaths had occurred. There were no age- or sex-specific differences in either incidence or mortality rates. Case fatality rates of the syndrome were high in all predisposed groups.

Adult↗
PubMed1981

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

beta 0-Thalassemia is a heterogeneous group of disorders associated with absence of beta-globin. In a survey of DNAs from patients with beta 0-thalassemia of diverse ethnic origins, a change at the splice junction at the 5' end of the large intervening sequence (IVS 2) of the human beta-globin gene has been found in one patient of Italian and another two of Iranian ethnic origins. The enzyme Hph I recognizes a change at this site and generates a large-than-normal fragment of DNA, which hybridizes specifically to a beta-globin IVS 2 probe. No other changes in beta-globin gene DNA structure or organization are detectable by extensive restriction endonuclease analysis. The enzyme HinfI which recognizes a sequence beginning three nucleotides from the 5' end of the IVS 2 splice junction, produces normal fragments and localizes the defect to a G-G-T sequence at the 5'-end IVS 2 splice junction. This sequence is known to be remarkably conserved in all globin genes from many species and in most other genes examined to date. Thus, in at least some beta 0-thalassemia patients, the beta 0-thalassemia defect is associated with a nucleotide change at a splice junction. These patients provide unique examples of naturally occurring defects in splice junctions of eukaryotic genes associated with absence of specific gene function.

Base Sequence↗
PubMed1981

Localization of the site of recombination in formation of the Lepore Boston globin gene.

The site of crossover between the delta- and beta-globin gene sequences resulting in Lepore Boston globin gene formation has been localized at the DNA Level. Probes specific for detecting the intervening sequences (IVS) of the delta- and beta-globin genes were used to map the origin of cellular DNA fragments of a patient homozygous for hemoglobin Lepore Boston. Restriction endonuclease analysis and hybridization of this DNA to IVS specific probes show that most, if not all, of the large intervening sequences (IVS 2) in Lepore DNA are derived from the beta-globin gene IVS 2. In addition, the crossover occurs in a region of DNA in which the delta- and beta-genes have almost complete nucleotide homology, and might be expected to pair most tightly during meiosis.

Base Sequence↗
PubMed1981

A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

A new polymorphism in the beta-globin is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the beta-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing beta-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of beta A-genes, and 38% of beta-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen the the delta-globin gene with a delta-IVS probe. The beta-Asu I polymorphism is shown to be useful in the antenatal diagnosis of beta-thalassemia.

Base Sequence↗
PubMed1981

Isolation and characterization of cloned DNA: the delta and beta globin genes in homozygous beta + thalassemia.

We have isolated and characterized a clone of human DNA from a patient with beta+ thalassemia containing the entire delta and beta structural genes and their flanking sequences. Partial Eco RI digestion of spleen DNA was used to obtain 15 to 20 kilobase (kb) pieces of human DNA that were then ligated to charon 4A lambda phage DNA. The 8 x 10(5) recombinants obtained were grown and screened for their content of beta gene sequences. Four positive clones were found, and one (beta T1-1) has been extensively analyzed. Subclones containing the entire beta gene and the large beta intervening sequence (IVS 2) have been isolated in the plasmid pBR 322. The fragments generated by restriction enzyme digestion in these subclones have been compared to those in similar subclones from normal beta genes. No differences have been found indication no significant rearrangements of deletions of the delta and beta genes. With the enzymes used, 11.2% of IVS 2 have been compared, and thus far no differences between the thalassemic and normal genes have been detected. The 24 enzymes used include Hph I, which recognizes the 5' end of IVS 2, and AIu I that cleaves at the 3' end. Thus, there appears to be conservation of nucleotide sequences at the ends of IVS 2 in this beta + thalassemia patient, although RNA metabolism studies suggest a possible defect in RNA processing.

Adult↗
PubMed1980

The organization of the gamma-delta-beta gene complex in normal and thalassemia cells.

Restriction enzyme digestion analysis and direct human globin gene cloning have permitted analysis of the physical arrangement of nucleotide sequences within and surrounding the human globin genes. With these methods it has been shown that the linear arrangement 5' to 3' of the globin genes is G gamma-A gamma-delta-beta. The G gamma and A gamma genes are separated by about 3.5 kilobases (kb), while the A gamma and delta genes are 15 kb apart, and the delta and beta 6.5 kb apart. Each of these genes contains a large intervening sequence (IVS) of approximately 1 kb in precisely the same position between condons 104 and 105. In addition, each of these genes has a small IVS between codons 30 and 31. In homozygous delta beta thalassemia DNA, there is deletion of all of the normal delta and beta gene fragments. However, a new fragment 4.2 kb in size containing the 5' end of the delta globin gene is retained. Retention of this fragment in delta beta thalassemia, but not in HPFH is consistent with a role for sequences in this region for limiting gamma globin gene expression. Studies to date suggest that the beta + and beta 0 thalassemias will be due to a heterogeneous group of DNA defects affecting either beta globin gene transcription or beta mRNA processing. In most cases of beta + and beta 0 thalassemia DNA analyzed, there is no detectable deletion of beta or delta genes. In three India beta 0 patients, deletion of the 3' end of the beta gene has been found. Analysis of cloned beta globin genes from a patient with beta + thalasseia shows differences from normal in the fragments generated by restriction enzymes which cut frequently. Whether these differences are responsible for the defect in thalassemia or are polymorphisms unrelated to thalassemia remains to be determined.

Base Sequence↗
PubMed1976

Experimental studies on food selective behavior in squirrel monkeys fed on riboflavin deficient diet.

The present study was conducted to determine the extent to which squirrel monkeys might demonstrate self-selective behavior when fed a riboflavin deficient diet, and the extent to which such a diet might lead to digestive disturbances, general weakness, lack of vigor, and loss of weight for such animals. Ss included 12 male squirrel monkeys approximately eight months of age. Experimental Ss, fed a riboflavin deficient diet, were tested on performance on a T-maze, a "vigor roller apparatus," and observed for digestive disturbances, general weakness, and loss of weight. Control Ss, fed a balanced diet, were given the same procedure. Significant results from the .001 to the .05 levels indicated experimental S s preferred a high riboflavin diet after the diet was deficient in this substance, and indicated digestive disturbances, lack of vigor, and loss of weight as compared with the control Ss.

Animals↗
PubMed1976

A randomized controlled trial of vitamin C in the prevention and amelioration of the common cold.

A randomized controlled trial of the effect of 1 g ascorbic acid per day in the prevention of the common cold was conducted on 688 adult women. There is evidence of a small reduction by vitamin C in the mean number of chest colds, but no evidence of any effect on simple colds. The existence of a subgroup of vulnerable women in the community who benefit from vitamin C was considered but further examination of the data gives no support to this conclusion.

Adult↗
PubMed1975

Experimental studies of food selective behavior in squirrel monkeys fed on riboflavin deficient diet.

A squirrel monkey, if it needs a particular dietary component because of a metabolic disorder or because that food has been excluded from its diet, will develop a specific hunger for the food. In cases where specific hungers show up clearly, four behaviors can be demonstrated: (1) The monkey prefers the food it needs to other foods that are also available; (2) It usually ingests large amounts of the food to meet its particular physiological requirements; (3) The animal will tend to eat the needed food even while the stomach is full; (4) When vitamin B2 is removed from its diet, a squirrel monkey will exhibit digestive disturbance, general weakness, a lack of vigor, and loss of weight.

Animals↗
PubMedDate not supplied

Development and reliability of a Telephone-Administered Perceived Racism Scale (TPRS): a tool for epidemiological use.

The conceptualization of perceived racism as a chronic stressor is relatively new to epidemiology. The Telephone-Administered Perceived Racism Scale (TPRS) captures the complexity of racism within five scales: Experience of Racism (by Blacks as a group and by the respondent), Emotional Responses, Behavioral Responses, Concern for Child(ren), and Past Experiences of Racism. The TPRS was developed for employed Black women. Exploratory factor analyses and tests of internal consistency were completed with 476 Black women, aged 36-53. Factor analyses on their responses to racism yielded five factors: passive emotions, active emotions, passive behaviors, internal active behaviors, and external active behaviors. Alpha reliability values ranged from 0.75 to 0.80 for the active and passive emotions subscales, from 0.59 to 0.69 for the passive behaviors subscale, and greater than 0.76 for both active behaviors subscales. Alpha reliabilities were 0.82, 0.90, 0.88, and 0.82 for Past Experiences, Concern for Child(ren), Experience of Racism--Personal, and Experience of Racism--Group, respectively. Another 30 Black women were queried for test-retest reliability, with values ranging from 0.61 to 0.82. The TPRS was found to be reliable and should serve as a useful epidemiological tool in the examination of the effects of perceived racism on Black women's health.

Adult↗