RESUMEN
Mapping of the genetic defect causing dominant palmoplantaris hyperkeratosis (PPHK) was continued based on the material of an extended Uzbek pedigree. No linkage between the PPHK gene and hypervariable DNA markers from 8p, 12p, 14q, and 22q were revealed. The study of PPHK gene linkage with DNA markers covering the entire length of 17th chromosome mapped the PPHK gene to 17q12-q24 and revealed close linkage with KRT10 and D17S800 loci (zero recombination frequency at a lod score > 7). The possible location of a PPHK mutation in one of the keratin genes mapped to the same region on the 17th chromosome is discussed.
Asunto(s)
Cromosomas Humanos Par 17 , Genes Dominantes , Queratodermia Palmoplantar/genética , Mapeo Cromosómico , Ligamiento Genético , Marcadores Genéticos , Humanos , Queratinas/genética , Recombinación GenéticaRESUMEN
Analysis of linkage between the gene of autosomal dominant tylosis and some loci with RFLP in 1, 14 and 17 chromosomes in the pedigree with this disorder was performed. A positive load score (0.729 at 0-0.20) for tylosis and D17S14 locus (DNA probe pTHH-59) was found.
Asunto(s)
Genes Dominantes , Queratodermia Palmar y Plantar Difusa/genética , Mapeo Cromosómico , Femenino , Ligamiento Genético , Humanos , Masculino , LinajeRESUMEN
Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the syndrome may be caused by mutations in the genes for type-I collagen (COL1A1 and COL1A2) or type-III collagen (COL3A1). Here, we performed linkage studies for these three genes in large Azerbaijanian family with EDS type I. Three polymorphisms in the COL3A1 gene, two in the COL1A1 gene, and one in the COL1A2 gene were tested using the polymerase chain reaction. The data obtained excluded linkage of any of the three genes to EDS type I in the family.
Asunto(s)
Colágeno/genética , Síndrome de Ehlers-Danlos/genética , Ligamiento Genético/genética , Polimorfismo de Longitud del Fragmento de Restricción , Secuencia de Bases , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Reacción en Cadena de la PolimerasaRESUMEN
The results of the clinico-genealogical investigation of patients with mild haemophilia A in a large azerbaijanian highly inbred kindred (446 members in VII generations) are presented. Some peculiarities of the disease segregation are discussed. The prevalence of the haemophilia A in the population examined was estimated as about 1:440.
Asunto(s)
Consanguinidad , Hemofilia A/genética , Azerbaiyán , Femenino , Frecuencia de los Genes , Tamización de Portadores Genéticos , Hemofilia A/complicaciones , Hemofilia A/epidemiología , Humanos , Masculino , LinajeRESUMEN
The data are presented on clinical forms and prevalence of neurological diseases in two regions of Kazakhstan, where about 2180600 inhabitants live. The data may constitute a basis for regional registration of neurological diseases and planning extensive specific genetic counselling concerning the diseases in the regions under study.
Asunto(s)
Enfermedades del Sistema Nervioso/genética , Población Urbana , Genes Dominantes , Genes Recesivos , Genética de Población , Humanos , Kazajstán , Enfermedades del Sistema Nervioso/epidemiologíaAsunto(s)
Anomalías Congénitas/diagnóstico , Adulto , Anomalías Congénitas/genética , Femenino , Asesoramiento Genético , Humanos , Masculino , Linaje , Embarazo , Diagnóstico Prenatal , ProbabilidadRESUMEN
The data are presented on prevalence and clinical patterns of Huntington disease in Shamkhor region of Azerbaijan, where about 126.8 thousand inhabitants live. Population, demographic and genealogical data show that high prevalence of Huntington disease in that region is determined by the founder effects, reinforced later by extended reproduction of the population. Linkage analysis using the affected sib-pair method failed to reveal a linkage between Huntington's chorea locus and HLA, AB0, MN systems. Significant probability of linkage to Huntington's chorea locus was calculated for Gc marker.
Asunto(s)
Enfermedad de Huntington/genética , Adulto , Anciano , Azerbaiyán , Femenino , Ligamiento Genético , Marcadores Genéticos , Genética de Población , Humanos , Enfermedad de Huntington/epidemiología , Masculino , Persona de Mediana Edad , LinajeRESUMEN
The frequency and polymorphism of erythrocyte G6Pd deficiency were studied in schoolchildren of Koby settlement, Apsheron district (n = 469). The total frequency of Gd- alleles was 3.6%. Out of 10 hemizygotes found 9 had Gd- alleles of the III class and 1 had Gd- allele of the II class. The mutant enzyme was isolated from 10 ml venous blood samples and studied according to WHO program. Three different mutant forms of G6PD were found, neither of them having been earlier described. One of these alleles was common for the population studied (n = 6).
Asunto(s)
Alelos , Eritrocitos/enzimología , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Polimorfismo Genético , Aneuploidia , Azerbaiyán , Niño , Genética de Población , Genotipo , Glucosafosfato Deshidrogenasa/sangre , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Heterocigoto , Homocigoto , Humanos , Mutación , Población RuralRESUMEN
We report on 18 infants from 13 families where the infant was affected with the Meckel syndrome. The parents belong to various national groups--Russians, Byelorussians, Poles, Ukranians, Letts, and Tatars. One child was from an incestuous union (half-sister and half-brother), in 4 families the parents were natives of the same or neighboring villages; other parents apparently were not related. Excluding 3 couples from Central Russia, the Ukraine, and Tatary, the other 10 families were the inhabitants of the Moscow region, Byelorussia, and Latvia. In 3 of these families at least one grandparent was of Tatar descent. At the same time the frequency of Tatars in these regions is less than 1%. Using the Newton binomial distribution it was shown that the hypothesis about equal frequency of the Meckel syndrome gene among Tatars and other national groups under study may be excluded completely, and therefore the alternative hypothesis about an unusually high frequency of this gene among Tatars must be accepted. Such analysis may be useful for comparative evaluation of gene frequencies in populations which cannot be studied directly.
Asunto(s)
Anomalías Múltiples/genética , Encefalocele/genética , Etnicidad , Dedos/anomalías , Enfermedades Renales Poliquísticas/genética , Dedos del Pie/anomalías , Anomalías Múltiples/epidemiología , Adulto , Consanguinidad , Encefalocele/epidemiología , Femenino , Frecuencia de los Genes , Genes Recesivos , Humanos , Recién Nacido , Masculino , Enfermedades Renales Poliquísticas/epidemiología , Síndrome , U.R.S.S./etnologíaRESUMEN
While studying an extended family of individuals with the Ehlers-Danlos (ED) syndrome type I, we found an affected male who was born to 2 affected consanguineous parents. This man had a more severe condition than that of his other affected relatives. Moreover, all 6 of his children were affected. Taking the pedigree data into account, the conditional probability of homozygosity for the ED gene in that patient was calculated as 97%. Some problems of the clinical and genetic approach to the recognition of the homozygous state in the ED syndrome are discussed using this family as an example.
Asunto(s)
Consanguinidad , Síndrome de Ehlers-Danlos/genética , Genes Dominantes , Homocigoto , Azerbaiyán , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , ProbabilidadRESUMEN
The results of genetic investigation of Ehlers - Danlos syndrome in the kindred of 205 members are presented. The autosomal dominant inheritance hypothesis was tested using two modes of ascertainment, complete and truncated. The data from the segregation analysis provide evidence for the Ehlers - Danlos syndrome type I being inherited as an autosomal dominant trait.
Asunto(s)
Síndrome de Ehlers-Danlos/genética , Azerbaiyán , Síndrome de Ehlers-Danlos/epidemiología , Femenino , Frecuencia de los Genes , Genes Dominantes , Humanos , Masculino , Matrimonio , Linaje , Factores Sexuales , Estadística como AsuntoRESUMEN
The predictive value of risk factors of stomach cancer was studied on the basis of the results of a complex genetico-epidemiologic survey conducted with a view to identifying the group at risk. An optimal combination of these factors and the multifactor method of mathematical statistics were used in working out a decision instruction. Application of the latter offers an 80% credibility in selecting persons at high risk for stomach cancer development. The paper deals with the findings on a significant relationship between stomach cancer development and genetic and familial factors as well as on indications at certain changes in gastrointestinal function observed before clinical manifestation of the disease. The results point to the efficacy of complex clinical, genetic and epidemiologic studies conducted for prediction of neoplasms caused by a set of factors.
Asunto(s)
Neoplasias Gástricas/epidemiología , Anciano , Análisis Factorial , Femenino , Gastritis/epidemiología , Gastritis/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Pronóstico , Riesgo , Programas Informáticos , Neoplasias Gástricas/genética , Úlcera Gástrica/epidemiología , Úlcera Gástrica/genética , U.R.S.S.RESUMEN
The results of medico-genetical investigation of Udegey population of Primorski territory were described. These studies were carried out by Moscow Institute of Medical Genetics. Marriage structure of population investigated was studied which demonstrated a low level of inbreeding and high frequency of intranational marriages. The structure of population morbidity was characterized by the absence of accumulation of specific hereditary pathology. Data obtained are of great interest for comparative analysis of populations of a different marriage structure.
Asunto(s)
Etnicidad , Genética de Población , Adolescente , Adulto , Anciano , Niño , Preescolar , Consanguinidad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Matrimonio , Persona de Mediana Edad , Morbilidad , SiberiaRESUMEN
A study was carried out in 7 Moscow maternity hospitals to determine the population incidence of the facial clefting from 1970 to 1976. Among 142,911 newborns, including stillborns, 190 were bound to have such malformations. After removal of 14 cases with recognized syndromes, the incidence of multifactorial anomalies was estimated to be 0,75 per 1000 for cleft lip (palate) and 0,48 per 1000 for isolated cleft palate. The combined estimate of both was 1,23 per 1000 total births. Sex ratio was 1,33 in CL(P) group and 0,64 in CP group. No correlation was found between maternal age, birth season and the clefting incidence. However, both CL(P) and CP incidence strongly increased with birth order. This fact awaits further testing, since it is not consistent with the data in literature.
Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Frecuencia de los Genes , Genética de Población , Población Urbana , Adulto , Orden de Nacimiento , Femenino , Humanos , Recién Nacido , Masculino , Edad Materna , Moscú , Estaciones del Año , Factores SexualesRESUMEN
A sample investigation was carried out in 14 maternity homes of Moscow during 1970--1976 in order to determine the population incidence of defects of the neural tibe. Among 282336 newborns 220 probands with these anomalies were found including 11 with syndromes of non-multifactorial etiology. The total incidence of multifactorial forms was 0.74 +/- 0.10 per 1000 newborns, the incidence of the anencephaly was 0.33 +/- 0.07% and the frequency of the spina bifida was 0.41 +/- 0.07% respectively. The sex ratio 0.61 among probands was statistically significantly different from that normal among newborns. An insignificant increase of the incidence of the defects was observed during the autumn and winter seasons. No correlation was observed between the mother's age, the birth order and the incidence of the neural tube defects.
Asunto(s)
Anencefalia/epidemiología , Espina Bífida Oculta/epidemiología , Femenino , Humanos , Recién Nacido , Masculino , Moscú , Estaciones del Año , Factores SexualesRESUMEN
PIP: The authors conducted a study on genetic disorders. They analysed 337 cases of patients coming for a consultation on progeny prognosis. The duration of the study was 2 1/2 years (1973, 1974 and the 1st semester of 1975). The study revealed the existence of the following main types of progeny genetic problems: chromosome pathology (114 cases); multifactorial diseases (121 cases); and monogenous diseases (47 cases). The most common problems are chromosome abnormalities and multifactorial diseases.^ieng