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Biomedical subjects

A Amorim

Publications and source records attributed to A Amorim.

At least 91 records · Page 5Linked to original sources
PubMed1995

The STR system hTPO: population and segregation data.

A population study was carried out on a random sample of 164 individuals from North Portugal using the short tandem repeat (STR) system hTPO (locus: 2p23-2pter). After electrophoresis, 7 alleles were identified of which 6 had been previously described and a new one, estimated to be 134 bp long. The observed genotype distribution is in Hardy-Weinberg equilibrium. In order to assess the forensic applicability of the system, namely for paternity investigations, 109 mother-child pairs were analysed. No exclusions were found and the observed distribution did not deviate from the expected. Since hTPO has a relatively high information content (PIC = 0.60; H = 0.65) this system can be very useful in paternity investigations.

Blood↗
PubMed1994

Distribution of ACP1, AK1 and ALAD polymorphisms in northern Portugal.

Red cell acid phosphatase (ACP1), adenylate kinase 1 (AK1), and aminolevulinate dehydratase (ALAD) polymorphisms were studied in a population sample from Northern Portugal. The gene frequency estimates found were: ACP1*A = 0.2825, ACP1*B = 0.6625, ACP1*C = 0.0547, ACP1*R = 0.0003 (N = 1517); AK1*1 = 0.9778, AK1*2 = 0.0213, AK1*3 = 0.0009 (N = 1081); ALAD*1 = 0.9094, ALAD*2 = 0.0906 (N = 1043).

Acid Phosphatase↗
PubMed1993

Human erythrocyte pyrimidine 5'-nucleotidase isoenzymes: effect of sulfhydryl reagents and electrophoretic discrimination.

The electrophoretic behavior of human red cell pyrimidine 5'-nucleotidase isozymes (UMPH1 and UMPH2) was studied on starch gels with and without treatment with thiol reagents. It was found that at least one reactive sulfhydryl group occurs in the UMPH1 isozyme but not in the UMPH2 isozyme. An electrophoretic system is described that allows the discrimination of UMPH1 and UMPH2 isozymes.

5'-Nucleotidase↗
PubMed1993

Subtyping of alkylated human orosomucoid: evidence for a duplicated gene, ORM1*F2S.

Isoelectric focusing of human orosomucoid (ORM) was studied following different sample treatment. It is shown that: (i) alkylation with iodoacetamide leads to a drastic change in the isoelectric point (pI) of both ORM1 F2 and ORM2 A gene products and greatly improves the discrimination between ORM1 F1 and ORM1 F2; (ii) previous reduction of the molecule with dithiothreitol partially inhibits the pI transitions with resultant artifactual ORM1 F1F2S patterns that correspond in most cases to F2S phenotypes. With the technique now described, the persistence of three ORM1 gene products was found in only one individual and the segregation analysis is consistent with the existence of a rare ORM1*F2S haplotype.

Alkylation↗
PubMed1991

Separation of human alloalbumin variants by isoelectric focusing.

A technique for the separation of human alloalbumin variants by means of isoelectric focusing in the presence of 8M urea and 60 mM L-serine is described. The potential usefulness of this technique in the detection and classification of genetic heterogeneity at the albumin locus is demonstrated by the differentiation of three human alloalbumin variants of European origin.

Europe↗
PubMed1990

Genetic polymorphism of delta-aminolaevulinic acid dehydratase (E.C. 4.2.1.24, ALAD) in the domestic rabbit.

A genetic polymorphism of delta-aminolaevulinic acid dehydratase (ALAD) in the domestic rabbit, Oryctolagus cuniculus, was detected by starch gel electrophoresis. Family data (15 matings with 49 offspring) support the genetic model of two common codominant alleles at an autosomal locus. Gene frequencies were calculated in a random sample of 55 mixed breed, unrelated domestic rabbits: ALAD1 = 0.31 and ALAD2 = 0.69.

Animals↗
PubMed1990

Formal and population genetics of F13A and FUCA1 polymorphisms in northern Portugal.

Subunit A of coagulation factor XIII (F13A) and alpha-L-fucosidase (FUCA1) polymorphisms were studied in unrelated healthy blood donors from northern Portugal. The gene frequencies found were: F13A*2 = 0.241 and FUCA1*2 = 0.308. Segregation analysis in mother/child pairs and nuclear families confirmed the previously described modes of inheritance for F13A and FUCA1, and no evidence for silent genes was found.

Factor XIII↗
PubMed1989

Linkage analyses of human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B).

Linkage data on human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B) are presented. The results confirm linkage between HF and F13B (lod = 5.32 at theta = 0.10 in males), and give strong evidence for linkage between PEPC and HF (lod = 5.14 at theta = 0.10 in males) and between PEPC and F13B (lod = 3.55 at theta = 0.10 in males). The claim that PEPA is linked with HF must be withdrawn.

Complement C3b Inactivator Proteins↗
PubMed1989

Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data.

Human peptidase C, PEPC (E.C.3.4.1.1), exhibits a previously undescribed genetic polymorphism, detectable in red cells or leukocytes by starch gel electrophoresis. Segregation analyses on 161 families with 469 offspring support the formal genetic hypothesis of two codominant alleles at an autosomal locus. Since four rare variants have previously been described, we named the polymorphic allele PEPC*6. Gene frequencies from southwestern Germany were PEPC*1 = 0.721 +/- 0.018; PEPC*6 = 0.276 +/- 0.018, and PEPC*R = 0.003 +/- 0.002.

Alleles↗
PubMed1988

Transferrin (Tf) polymorphism in wild rabbit, Oryctolagus cuniculus.

Evidence for two new alleles (TfC and TfD) at the transferrin locus (Tf) in wild rabbit, Oryctolagus cuniculus, is presented. Blood samples were collected in Continental Portugal (178 individuals), and in the Azores Islands of Terceira (52) and S. Miguel (59). The frequency of TfA, which is the only allele detected up to now in domestic rabbits, varied from 0.20 +/- 0.13 to 0.95 +/- 0.05 in the populations sampled in Continental Portugal. In the island populations sampled the frequency of TfA was greater than 0.8.

Alleles↗
PubMed1988

Formal genetics of esterase D (EC 3.1.1.1): evidence for a sex-phenotype association.

The formal genetics of esterase D (EC 3.1.1.1) was studied in family data and mother/child pairs. A general agreement with mendelian expectations was found. However, a significant sex-phenotype association was detected in families from northwestern Portugal as well as in mother/child pairs and family data from southwestern Germany.

Carboxylesterase↗
PubMed1988

Starfish acrosomal acid phosphatase: a cytochemical and biochemical study.

The acrosome reaction of spermatozoa from the starfish Marthasterias glacialis was induced with the ionophore A23187. Reacted cells were then processed for acid phosphatase ultrastructural cytochemistry, but significant enzyme activity was not detected. However, when the supernates from suspensions of ionophore-treated sperm were assayed for acid phosphatase, a net enzyme activity was observed. Supernatant proteins were run in starch gel electrophoresis and fluorescent zymograms revealed a single band of acid phosphatase. SDS-PAGE of proteins eluted from the active spots of starch gels showed one major band of about 63 kDa. The results obtained support the hypothesis that the acid phosphatase whose activity has been detected only at the time of binding of sperm and egg originates from the sperm acrosome.

Acid Phosphatase↗
PubMed1987

Mitochondrial malic enzyme in human leukocytes.

Leukocyte samples from 316 unrelated blood donors were screened for malic enzyme (MEM). The frequency of the common allele in this investigation was MEM1 = 0.63. There is evidence for the existence of a rare fourth allele MEM4.

Humans↗
PubMed1982

Aminolevulinate dehydratase (E.C. 4.2.1.24): linkage analysis.

Linkage data on aminolevulinate dehydratase (ALADH, E.C. 4.2.1.24) and a series of other human genetic markers are presented. One hundred and two families (25 of them being informative) from southwestern Germany were tested. Close linkage (theta = 0.05) between ALADH and the following markers could be excluded: Rh, PGM1, Fy, ACP1, MNSs, HLA, Bf, GLO, PGM3, Jk, Pi, PGP, K, GPT. There is some evidence of possible linkage with HPA.

Electrophoresis, Starch Gel↗