RESUMO
The 3' flanking region of the interleukin-6 gene is polymorphic due to the existence of a hyper-variable region consisting of a number of A + T rich variable repeated DNA sequences (VNTR). We used specific primers to amplify this particular VNTR system by PCR in 222 unrelated normal Spaniards from Madrid, Spain. A model of inheritance comprising of five different allele classes was proposed and frequencies evaluated as follows: B4, 0.635; B3.1, 0.029; B3, 0.270; B2, 0.038; B1, 0.027. Also, examples of inheritance of mendelian microheterogeneity are shown. Heterozigosity index was calculated (H = 0.5) and no departure from Hardy-Weinberg equilibrium was observed (chi 2 = 0.091, d. f. 1, p > 0.75).
Assuntos
Interleucina-6/genética , Repetições Minissatélites , Polimorfismo Genético , Heterogeneidade Genética , Humanos , Reação em Cadeia da Polimerase/métodos , EspanhaRESUMO
Since 1992 the Spanish and Portuguese Working Group (GEP) of the International Society for Forensic Haemogenetics (ISFH) has been organizing collaborative exercises on DNA profiling with the aim of making progress on standardization and discussing technical and statistical problems in DNA analysis. A total of four exercises (GEP-92 to GEP-95) have been carried out until now. A consequence of these exercises was the creation of a quality control programme in Spain and Portugal in 1995 which was carried out simultaneously with the GEP-95 exercise. The number of participating laboratories increased from 10 in the first exercise (GEP-92) to 19 in the last exercise (GEP-95). Despite this increasing number of participating laboratories, results remained satisfactory. In the last exercises, all the laboratories used PCR-based DNA polymorphisms with an increasing number of markers obtaining good results. SLPs were used by only 30% of laboratories in the last two exercises but the results indicated a good level of expertise in most of these laboratories. The reasons for these successful results are the common use of the EDNAP protocol for SLP analysis and commercially available kits or common sequenced allelic ladders for PCR-based DNA polymorphisms.
Assuntos
Medicina Legal , Cooperação Internacional , Laboratórios/normas , Polimorfismo Genético , Manchas de Sangue , Humanos , Paternidade , Portugal , Controle de Qualidade , Padrões de Referência , Reprodutibilidade dos Testes , EspanhaRESUMO
The fragment length polymorphism YNZ22 (D17S5) was analysed for a sample of 207 unrelated individuals living in Madrid (Spanish Caucasians) using PCR-methodology and high resolution separation. Hardy-Weinberg expectations (HWE) were calculated after pooling alleles into four groups. No deviations from HWE were detectable using the conventional chi 2-test. The power of discrimination was estimated as 0.96 and the mean paternity exclusion chance as 0.7587. A comparison of the allele frequency distribution with those of other Caucasian groups revealed no major differences.
Assuntos
Alelos , Cromossomos Humanos Par 17/genética , Impressões Digitais de DNA , Etnicidade/genética , Repetições Minissatélites , Genótipo , Humanos , Reação em Cadeia da Polimerase , Espanha , População Branca/genéticaRESUMO
A prenatal paternity test was requested by a 30-year-old woman. Variable number of tandem repeat (VNTR) systems were used for DNA analysis by means of amplification and electrophoresis followed by ethidium bromide staining or Southern blotting and oligonucleotide hybridization. Exclusion of paternity could be established on the basis of the great polymorphism and heterozygosity indexes of these genetic systems. This rapid method presents several advantages in contrast with other recombinant DNA techniques such as HLA class II oligotyping or RFLP.
Assuntos
Amostra da Vilosidade Coriônica , Paternidade , Reação em Cadeia da Polimerase/métodos , Sequências Repetitivas de Ácido Nucleico , Adulto , Autorradiografia , Sequência de Bases , DNA , Eletroforese em Gel de Poliacrilamida , Feminino , Triagem de Portadores Genéticos , Humanos , Dados de Sequência Molecular , Polimorfismo Genético , GravidezRESUMO
Alpha-2-HS-glycoprotein is considered a reliable genetic marker for paternity testing and forensic investigation. We describe a simple, semiautomated method for phenotyping this protein in serum samples, bloodstains and dental pulp using isoelectric focusing methods followed by immunofixation techniques. This method produces clear results even with very old biological evidence.
Assuntos
Proteínas Sanguíneas/genética , Fenótipo , Proteínas Sanguíneas/análise , Manchas de Sangue , Polpa Dentária/química , Marcadores Genéticos , Humanos , Focalização Isoelétrica/métodos , Paternidade , alfa-2-Glicoproteína-HSRESUMO
Immunofixation procedures were used for detecting alpha-1 antitrypsin protease inhibitor (Pi) phenotypes in bloodstains. Neuraminidase elution of bloodstains, together with isoelectric focusing, immunofixation, and silver staining techniques, makes possible Pi subtyping in old bloodstains. No extra bands appear when the storage time is no longer than three months.
Assuntos
Tipagem e Reações Cruzadas Sanguíneas/métodos , Manchas de Sangue , Inibidores de Proteases/sangue , Alelos , Preservação de Sangue , Variação Genética , Humanos , Focalização Isoelétrica , FenótipoRESUMO
The distribution of the phenotypes for coagulation factor XIIIA subunit (F13A) of autochthonous individuals from the following five Spanish populations was studied: Galicia, Castilla-León, Castilla-La Mancha, Extremadura and Western Andalusia. The frequency values obtained for F13A*2 ranged from 0.248 to 0.311. To date, these values are the highest recorded in the world.
