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Results for “Genetic carrier screening”

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At least 19 recordsLinked to original sources
PubMed1978

Stigmatization of carrier status: social implications of heterozygote genetic screening programs.

Possible latent psychological and social consequences ensuing from genetic screening programs need to be investigated during the planning phase of national genetic screening programs. The relatively few studies which have been performed to determine psychological, social, and economic consequences resulting from a genetic screening program are reviewed. Stigmatization of carrier-status, having major psychosocial implications in heterozygote genetic screening programs, is discussed and related to Erving Goffman's work in the area of stigmatization. Questions are raised regarding the relationship between such variables as religiosity and sex of the individual and acceptance of the status of newly identified carrier of a mutant gene. Severity of the deleterious gene and visibility of the carrier status are two important factors to consider in an estimation of potential stigma. Specific implications are discussed for four genetic diseases: Tay-Sachs, Sickle-Cell Anemia, Huntington's disease and Hemophilia.

Anemia, Sickle Cell↗
PubMed2026

Protective TMEM106B-rs3173615 delays age at onset in GRN mutation carriers.

One of the major causative genes involved in Frontotemporal dementia (FTD) is Granulin (GRN), encoding for Progranulin (PGRN). GRN mutation carriers show a substantial heterogeneity with high variability in age at onset and pathological presentation, even within the same family or identical mutations, suggesting the presence of additional genetic factors. Single nucleotide polymorphisms in the Transmembrane protein 106B (TMEM106B) locus were identified as a genetic risk-associated factor for FTD. The top variant identified was the non-coding rs1990622, with the major allele (T) associated with an increased risk to develop FTD, while subjects with the minor allele (C) were less likely to develop disease, suggesting a protective effect. In this study, we investigate in a large Italian cohort of GRN mutation carriers, how the coding variant TMEM106B-rs3173615, in linkage disequilibrium with rs1990622, modulates age at onset, survival, and PGRN levels, including, up to date, the highest sample size of homozygous protective allele carriers. Genetic screening for TMEM106B-rs3173615 was performed on a total of 187 GRN mutation carriers, comprising 131 FTD patients and 56 pre-symptomatic subjects. Individuals with the protective genotype (GG) had a risk of FTD onset reduced by 80%, with a median age at onset of 77 years compared to a median age at onset of 63 years for individuals without the protective genotype. TMEM106B-rs3173615 acts as a genetic modifier of age at onset in the presence of GRN mutations and could be considered in clinical practice to optimize risk stratification for FTD.

Humans↗
PubMed1979

Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: effects on knowledge and mood.

To evaluate the effects of genetic screening and counseling in a population unselected for interest, adults in a health maintenance organization (HMO) were screened for beta-thalassemia trait as part of health care or multiphasic screening. Counseling was provided by either a trained physician or a videotape containing the same information, followed by an opportunity to question a trained physician. Knowledge of thalassemia, knowledge of genetics, and mood were assessed by standardized questionnaires and by interview immediately before and after counseling. Compared to controls, trait subjects demonstrated significant learning about thalassemia (P less than .001) and about genetics (P less than .001) and recorded significant mood changes, namely, surprise (startle) (P less than .05), increased alertness (decreased deactivation) (P less than .05), and decreased skepticism (P less than .01). Screening and genetic counseling for beta-thalassemia trait conducted as part of multiphasic screening of the population of a HMO, essentially and unselected population, can result in significant overall learning with acceptable effects on mood.

Adult↗
PubMed1979

Thalassemia and pregnancy: results of an antenatal screening program.

A thalassemia screening program was implemented at our institution using the finding of a mean corpuscular volume less than 80 fl as the index of abnormality. Further evaluation using hemoglobin (Hb) electrophoresis and serum iron studies was carried out according to the scheme detailed below. A diagnosis of thalassemia was made in 33 women (42 pregnancies). Eight patients had alpha-thalassemia trait, 23 beta-thalassemia trait, and two Hb H disease. Thalassemia trait did not have any adverse effect on pregnancy outcome. In two couples the fetuses were at risk for homozygous disease and in one couple the fetus was at risk for sickle cell beta-thalassemia. The screening program described is an effective and inexpensive means of detecting thalassemia in an antenatal population and is applicable to most every clinic or office setting.

Adult↗
PubMed1979

Gene mutations (de novo) found in electrophoretic studies of blood protein of infants with anomalous development.

Twelve proteins of enzymic and nonenzymic nature in blood samples of infants that deviate from the average population in physical development (50 premature and 177 full-term infants with rough and multiple developmental defects) were studied by electrophoresis in polyacrylamide and starch gels. The control group consisted of 500 normal newborns. In infants with developmental disorders, the frequency of rare electrophoretic protein variants was found to be about one order of magnitude higher than in the control. It has been shown for at least five cases that such variants are de novo mutations. According to these data the mutation rate is approximately 2 x 10(-3) per locus per generation for the group selected and approximately 6 x 10(-5) for the total population. Despite the fact that further specification of the estimations found is required, we consider the results obtained as evidence in favor of the efficiency of the earlier substantiated monitoring model of gene mutations in the human population [Dubinin, N.P. & Altukhov, Yu. P. (1977) in Genetic Consequences of Environmental Pollution, ed. Dubinin, N.P. (Mysl, Moscow), pp. 14-45]. This approach, which infers electrophoretic screening of blood proteins in a specially selected group of newborns, makes it possible to reduce the size of samples needed for statistically reliable estimations of the alteration of mutation rate.

Blood Group Antigens↗
PubMed1979

Inborn errors of lysosomal catabolism--principles of heterozygote detection.

Carriers of an inborn error of lysosomal catabolism can be recognized, as they have enzyme levels approximately half those of normal individuals. Of the various tissues readily available for assay, plasma and leukocytes and, in some situations, tears are preferred. Although mixed leukocytes have proved satisfactory in Tay-Sachs screening programs, purified preparations of granulocytes or lymphocytes will allow better discrimination in most situations. Enzymes are assayed relative to some other reference parameter which must be a constant or highly correlated with test enzyme activity. In the two mass screening programs in operation, beta-hexosaminidase A and alpha-mannosidase have both been assayed relative to total beta-hexosaminidase activity. Carrier detection is particularly important in X-linked diseases. The techniques used mostly involve hair roots or fibroblasts and depend on random inactivation of the X chromosome. In the mucolipidoses II and III, in which there are a number of deficient enzymes in cells, carriers may be identified on the basis of the ratio of beta-hexosaminidase I1 and I2 to total hexosaminidase.

Animals↗
PubMed1978

[Screening for heterozygotes in a large family suffering from Steinert's disease with varying clinical manifestations (author's transl)].

Starting with 4 probands, our study for the early detection of heterozygotes enabled us to investigate a family suffering from myotonic dystrophy, through 8 generations. Out of 274 family members, 209 are still living, 101 of whom were examined by us personally. We discovered, in all, 12 patients with Steinert's disease (one of which was a childhood case), 14 with a "forme fruste" (two of which were infantile cases) and 2 patients with only a myotonic cataract. The clinical picture varied a great deal amongst the patients, but showed in general a rather benign evolution. With respect to diagnostic methods, most of the 24 secondary cases were detected through clinical examination preceded by a good case history (6 out of the 8 classical forms, and all the 14 "formes frustes"). Slit lamp examination was indispensable for the recognition of the first changes in the lenses of two young adults and, likewise, for the detection of two isolated myotonic cataracts. The electromyography showed characteristic anomalies in 3 patients; in addition, non-specific alterations existed in 3 other patients who showed only slight signs of the disease. Neither the gammaglobulins nor the ABH secretion factors were of any diagnostic aid in this family. Our investigation is relevant in the context of the prevention of hereditary conditions, in particular Steinert's disease. Indeed, owing to the early recognition of the heterozygotes, an adequate genetic prognosis can be given in due time to the family members at risk.

Adolescent↗
PubMed1979

Color blindness not closely linked to bipolar illness. Report of a new pedigree series.

A new pedigree series of bipolar manic-depressive patients admitted to the National Institute of Mental Health intramural research program was evaluated for linkage between bipolar illness and red-green color blindness, since previous studies had indicated that close linkage was generally present. Using family study methods, six informative pedigrees were investigated. Analysis was performed using a multigenerational procedure and taking into account variable penetrance. Close linkage could be definitively ruled out as a general finding. Bipolar and related illnesses are thus not generally transmitted by a single major gene close to the protan/deutan region of the human X-chromosome.

Bipolar Disorder↗
PubMed1979

New data do not suggest linkage between the Xg blood group and bipolar illness.

The Xg blood group antigen (a genetic marker of a region of the X chromosome at a considerable distance from protan/deutan color blindness) was studied for linkage to bipolar manic-depressive illness. A multigenerational analytic method, taking variable penetrance into account, was used. In our series of six informative pedigrees, very close linkage could be definitively ruled out, and the likelihood of less tight linkage was consistently less than the likelihood of nonlinkage.

Bipolar Disorder↗
PubMed1979

Color blindness linkage to bipolar manic-depressive illness. New evidence.

Linkage between protanopia and deuteranopia and bipolar manic-depressive illness is demonstrated in a sample of eight informative families ascertained in Brussels. Genetic heterogeneity of bipolar affective disorders is also shown in the present study. These results add new evidence to the hypothesis of X-linked dominant genetic transmission of affective liability in a subgroup of patients with bipolar affective disorders.

Adult↗
PubMed1979

Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.

A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal Hb was found to be coexistent with beta o thalassemia; two sisters had lowered MCV and MCH values and levels of the abnormal Hb significantly lower than in other heterozygotes for Hb G San José. The alpha-chain/total beta-chain synthesis ratios suggest an alpha-thalassemic-like effect. Their mother had lowered MCV and MCH values, an Hb A2 level in the upper limit of the normal range, and a balanced alpha-chain/beta-chain synthesis ratio. Therefore, the possibility of coexistence of an alpha thalassemia trait with a beta thalassemia trait in the mother of the proposita and with Hb G San José heterozygosity in the two sisters who had lowered levels of abnormal Hb is discussed.

Child, Preschool↗