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1.
J Neurol ; 266(8): 1953-1959, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31076878

RESUMO

BACKGROUND: Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal ß-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases have been reported. The clinical course of LOTS differs substantially from classic infantile TSD. METHODS: Comprehensive data from 14 Czech patients with LOTS were collated, including results of enzyme assays and genetic analyses. RESULTS: 14 patients (9 females, 5 males) with LOTS were diagnosed between 2002 and 2018 in the Czech Republic (a calculated birth prevalence of 1 per 325,175 live births). The median age of first symptoms was 21 years (range 10-33 years), and the median diagnostic delay was 10.5 years (range 0-29 years). The main clinical symptoms at the time of manifestation were stammering or slurred speech, proximal weakness of the lower extremities due to anterior horn cell neuronopathy, signs of neo- and paleocerebellar dysfunction and/or psychiatric disorders. Cerebellar atrophy detected through brain MRI was a common finding. Residual enzyme activity was 1.8-4.1% of controls. All patients carried the typical LOTS-associated c.805G>A (p.Gly269Ser) mutation on at least one allele, while a novel point mutation, c.754C>T (p.Arg252Cys) was found in two siblings. CONCLUSION: LOTS seems to be an underdiagnosed cause of progressive distal motor neuron disease, with variably expressed cerebellar impairment and psychiatric symptomatology in our group of adolescent and adult patients. The enzyme assay of ß-hexosaminidase A in serum/plasma is a rapid and reliable tool to verify clinical suspicions.


Assuntos
Cerebelo/diagnóstico por imagem , Transtornos Mentais/diagnóstico por imagem , Atrofia Muscular/diagnóstico por imagem , Doença de Tay-Sachs/diagnóstico por imagem , Adolescente , Adulto , Idade de Início , Estudos de Coortes , República Tcheca/epidemiologia , Feminino , Humanos , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Pessoa de Meia-Idade , Atrofia Muscular/epidemiologia , Atrofia Muscular/psicologia , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/psicologia , Adulto Jovem
3.
Genet Test Mol Biomarkers ; 20(9): 504-9, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27362553

RESUMO

BACKGROUND AND AIMS: Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations. METHODS: Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA ("carriers") had subsequent HEXA gene sequencing performed. RESULTS: Of the 508 patients, 25 (4.9%) were EA positive and 40 (7.9%) were inconclusive. Of the 12 patients who were sequenced, 11 did not carry a pathogenic variant and one carried a likely deleterious mutation (NM_000520.4(HEXA):c.1510C>T). CONCLUSIONS: High inconclusive rates and poor correlation between positive/inconclusive enzyme results and identification of pathogenic mutations suggest that ethnic-specific recalibration of reference ranges for EA may be necessary. Alternatively, HEXA gene sequencing could be performed.


Assuntos
Ensaios Enzimáticos/métodos , Triagem de Portadores Genéticos/métodos , Doença de Tay-Sachs/enzimologia , Doença de Tay-Sachs/genética , Cadeia alfa da beta-Hexosaminidase/genética , Cadeia alfa da beta-Hexosaminidase/metabolismo , Afro-Americanos/genética , Grupos Étnicos/genética , Testes Genéticos/métodos , Heterozigoto , Hispano-Americanos/genética , Humanos , Judeus/genética , Mutação , Cidade de Nova Iorque/epidemiologia , Reprodutibilidade dos Testes , Análise de Sequência de DNA , Doença de Tay-Sachs/diagnóstico , Doença de Tay-Sachs/epidemiologia
4.
J Paediatr Child Health ; 51(3): 271-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24923490

RESUMO

Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting.


Assuntos
Testes Genéticos/economia , Judeus/genética , Cuidado Pré-Concepcional/métodos , Diagnóstico Pré-Natal/métodos , Doença de Tay-Sachs/diagnóstico , Doença de Tay-Sachs/epidemiologia , Adulto , Austrália/epidemiologia , Criança , Feminino , Testes Genéticos/métodos , Humanos , Incidência , Cooperação Internacional , Masculino , Cuidado Pré-Concepcional/economia , Gravidez , Diagnóstico Pré-Natal/economia , Doença de Tay-Sachs/genética
5.
Iran Biomed J ; 18(2): 114-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24518553

RESUMO

BACKGROUND: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. METHODS: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. RESULTS: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. CONCLUSION: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.


Assuntos
Mutação/genética , Doença de Tay-Sachs/diagnóstico , Doença de Tay-Sachs/genética , Cadeia alfa da beta-Hexosaminidase/genética , Humanos , Irã (Geográfico)/epidemiologia , Subunidades Proteicas/genética , Doença de Tay-Sachs/epidemiologia , Cadeia beta da beta-Hexosaminidase/genética
6.
Med J Aust ; 197(11): 652-4, 2012 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-23230938

RESUMO

OBJECTIVES: To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births. DESIGN, PARTICIPANTS AND SETTING: Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal Children's Hospital Melbourne; Pacific Laboratory Medicine Services, Pathology North, NSW Health Pathology, Sydney; Victorian Clinical Genetics Services, Melbourne; and SA Pathology, Adelaide), and carrier frequency among Jewish high school students attending schools participating in TSD screening programs over the same period. MAIN OUTCOME MEASURES: Jewish TSD carrier frequency; and expected versus observed Jewish TSD-affected births. RESULTS: The 2006 Census indicated that most of the total 88,826 Jewish Australians live in Melbourne (46%) and Sydney (40%). The 7,756 Jewish high school students screened for TSD in Sydney and Melbourne during the study period had a carrier frequency of one in 31 (3.26%; 95% CI, 2.89%-3.68%).The estimated expected number of TSD-affected births in Melbourne and Sydney in 1995-2011 was 4.1 for Jewish births and 7.4 for other births (a ratio of Jewish to non-Jewish births of 1:2). The actual number was 12 (four in Sydney and eight in Melbourne), of which two were Jewish (a ratio of Jewish to non-Jewish births of 1:5). This finding of fewer than expected Jewish TSD cases coincided with a period during which screening programs were operating. There have been no Jewish TSD-affected children born to parents who were screened previously. CONCLUSION: Community education, appreciation of autosomal recessive inheritance and genetic carrier screening before pregnancy are the likely factors in our finding of fewer than expected Jewish babies with TSD. Ongoing outcome monitoring must continue.


Assuntos
Heterozigoto , Judeus/genética , Doença de Tay-Sachs/diagnóstico , Doença de Tay-Sachs/epidemiologia , Adolescente , Adulto , Austrália/epidemiologia , Feminino , Triagem de Portadores Genéticos , Testes Genéticos , Humanos , Incidência , Cuidado Pré-Concepcional , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Instituições Acadêmicas , Inquéritos e Questionários , Doença de Tay-Sachs/genética , Adulto Jovem
7.
Genet Med ; 11(6): 425-33, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19346952

RESUMO

PURPOSE: To evaluate the safety and efficacy of miglustat in patients with GM2 gangliosidosis. METHODS: A randomized, multicenter, open-label, 12-month study involving patients aged 18 years or older, randomized 2:1 to miglustat (200 mg TID) or "no miglustat treatment." This study was followed by 24 months of extended treatment during which all patients received miglustat. Primary efficacy endpoints were change in eight measures of isometric muscle strength in the limbs and isometric grip strength, evaluated at baseline, and months 12 and 36. Secondary efficacy endpoints included gait, balance, disability, and other neurological assessments. Safety evaluations included adverse event reporting. RESULTS: Thirty patients (67% male, age range 18-56 years) with late-onset Tay-Sachs disease were enrolled; 20 were randomized to miglustat and 10 to "no miglustat treatment." Muscle and grip strength generally decreased over the study period. No differences were observed between the two groups in any efficacy measure, either during the 12-month randomized phase or the full 36 months. The most common treatment-related adverse events were decrease in weight and diarrhea. CONCLUSION: Miglustat treatment was not shown to lead to measurable benefits in this cohort of patients with late-onset Tay-Sachs disease. The observed safety profile was consistent with that of the approved dose (100 mg TID) in type 1 Gaucher disease.


Assuntos
1-Desoxinojirimicina/análogos & derivados , Doença de Tay-Sachs/tratamento farmacológico , 1-Desoxinojirimicina/efeitos adversos , 1-Desoxinojirimicina/uso terapêutico , Adolescente , Adulto , Idade de Início , Diarreia/induzido quimicamente , Inibidores Enzimáticos/efeitos adversos , Inibidores Enzimáticos/uso terapêutico , Fadiga/induzido quimicamente , Feminino , Inibidores de Glicosídeo Hidrolases , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Tay-Sachs/epidemiologia , Fatores de Tempo , Resultado do Tratamento , Perda de Peso/efeitos dos fármacos , Adulto Jovem
8.
Med Sci (Paris) ; 23(11): 997-1001, 2007 Nov.
Artigo em Francês | MEDLINE | ID: mdl-18021714

RESUMO

The prevalence and distribution of genetic diseases in the province of Quebec has been influenced by its population history. The current French Canadian population stems from 8,500 pioneers who left France for Nouvelle-France between 1608 and 1759. After the English conquest of Nouvelle-France in 1759, the French Canadian population remained mostly genetically isolated, for linguistic, cultural, and religious reasons. The migration of a small number of French individuals to Nouvelle-France created a founder effect. Subsequent migrations inland have created smaller regional founder effects. The limited size of the population favoured genetic drift, and the social context encouraged endogamy, i.e. unions between French Canadians with little admixture with English and other immigrants. Founder effects, genetic drift, and endogamy have all played a role in the current prevalence and distribution of genetic diseases now found in Quebec. The prevalence and distribution of genetic diseases in Quebec need to be taken into account in clinical practice. When clinicians are knowledgeable about the genetic diseases prevalent in the population they treat, they know to consider these diseases in differential diagnoses when appropriate and prioritize investigations accordingly. When developing a new diagnostic test for a genetic disease, the prevalence of the disease and the nature of the mutations found in the target population need to be taken into account. The performance of the test will depend on how well it accounts for the particularities of the disease in that population. In other words, how well does it detect the mutations found in that population? Interpretation of individual genetic test results will also depend on how well the test is expected to perform in the individual's population.


Assuntos
Doenças Genéticas Inatas/epidemiologia , França/etnologia , Doenças Genéticas Inatas/classificação , Humanos , Prevalência , Quebeque/epidemiologia , Doença de Tay-Sachs/epidemiologia
9.
Neurology ; 63(10): 1918-26, 2004 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-15557512

RESUMO

BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is an adult-onset, autosomal recessive, progressive variant of GM2 gangliosidosis, characterized by involvement of the cerebellum and anterior horn cells. OBJECTIVE: To determine the range of visual and ocular motor abnormalities in LOTS, as a prelude to evaluating the effectiveness of novel therapies. METHODS: Fourteen patients with biochemically confirmed LOTS (8 men; age range 24 to 53 years; disease duration 5 to 30 years) and 10 age-matched control subjects were studied. Snellen visual acuity, contrast sensitivity, color vision, stereopsis, and visual fields were measured, and optic fundi were photographed. Horizontal and vertical eye movements (search coil) were recorded, and saccades, pursuit, vestibulo-ocular reflex (VOR), vergence, and optokinetic (OK) responses were measured. RESULTS: All patients showed normal visual functions and optic fundi. The main eye movement abnormality concerned saccades, which were "multistep," consisting of a series of small saccades and larger movements that showed transient decelerations. Larger saccades ended earlier and more abruptly (greater peak deceleration) in LOTS patients than in control subjects; these changes can be attributed to premature termination of the saccadic pulse. Smooth-pursuit and slow-phase OK gains were reduced, but VOR, vergence, and gaze holding were normal. CONCLUSIONS: Patients with late-onset Tay-Sachs disease (LOTS) show characteristic abnormalities of saccades but normal afferent visual systems. Hypometria, transient decelerations, and premature termination of saccades suggest disruption of a "latch circuit" that normally inhibits pontine omnipause neurons, permitting burst neurons to discharge until the eye movement is completed. These measurable abnormalities of saccades provide a means to evaluate the effects of novel treatments for LOTS.


Assuntos
Movimentos Sacádicos , Doença de Tay-Sachs/fisiopatologia , Adulto , Idade de Início , Progressão da Doença , Extremidades/fisiopatologia , Movimentos Oculares , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estimulação Luminosa , Movimentos Sacádicos/fisiologia , Doença de Tay-Sachs/complicações , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/patologia , Testes Visuais , Acuidade Visual
11.
J. bras. med ; 81(5/6): 17-22, nov.-dez. 2001. tab, graf
Artigo em Português | LILACS | ID: lil-304988

RESUMO

A doença de Tay-Sachs apresenta uma freqüência elevada em determinados grupos étnicos, sobretudo nos judeus ashkenazi. É uma desordem neurodegenerativa, presente principalmente em crianças, decorrente de uma atividade deficiente da enzima lisossomal hexosaminidase A, acarretando um acúmulo intracelular de substratos e um progressivo déficit neurológico. O tratamento é discutível, entretanto, resultados promissores têm sido obtidos com a utilização da NB-DNJ e, principalmente, com a terapia genética


Assuntos
Humanos , beta-N-Acetil-Hexosaminidases , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/etnologia , Doença de Tay-Sachs/terapia , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Glicoesfingolipídeos , Testes Genéticos , Transplante de Medula Óssea/reabilitação , Vetores Genéticos/uso terapêutico
15.
Neuropsychobiology ; 41(3): 127-31, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10754426

RESUMO

Patients with late-onset Tay-Sachs disease (TSD) may manifest with neuropsychiatric features. We hypothesized that the prevalence of TSD carriers in psychiatric patients is higher than in the general population and their clinical profile is different from that of their noncarrier counterparts. Among 500 Ashkenazi-Jewish psychiatric patients, 19 were found to be TSD carriers. Their prevalence in the study population is proportional to that in the general Ashkenazi population. However, abnormal neurological findings, especially cognitive impairment, were commoner among TSD carriers (47.4 vs. 26.2%, p = 0.04). It is possible that chronic use of some psychotropic drugs plays a role in this phenomenon.


Assuntos
Transtornos Cognitivos/epidemiologia , Triagem de Portadores Genéticos/métodos , Heterozigoto , Transtornos Psicóticos/epidemiologia , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/genética , Transtornos Cognitivos/diagnóstico , Comorbidade , Análise Mutacional de DNA , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Prevalência , Transtornos Psicóticos/sangue , Transtornos Psicóticos/diagnóstico , Medição de Risco , Doença de Tay-Sachs/sangue , beta-N-Acetil-Hexosaminidases/sangue , beta-N-Acetil-Hexosaminidases/genética
16.
Eur J Pediatr ; 159 Suppl 3: S192-5, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11216898

RESUMO

UNLABELLED: Since 1970, more than 1.4 million individuals worldwide have been screened voluntarily to determine if they are carriers of the mutant gene for Tay-Sachs Disease (TSD). Employing both enzymatic and molecular methods (for optimal sensitivity and specificity) more than 1400 couples have been identified to be at-risk for TSD in their offspring, i.e., both parents heterozygotes. Through prenatal testing of more than 3200 pregnancies, births of over 600 infants with this uniformly fatal neurodegenerative disease have been prevented. In the United States and Canada, the incidence of TSD in the Jewish population has been reduced by more than 90%. More that 100 mutations in the hexosaminidase A gene (the TSD locus) have been identified to date. Some are associated with later onset or more chronic forms of neuronal storage disease. Two mutations cause a carrier-like "pseudo-deficiency" when enzymatic testing is used (false positives). A number of practical, social, and ethical complexities have been identified in this prototypic population-based effort. Educational and counseling components must be provided both before and after screening. Issues of privacy and confidentiality of test results must be addressed. In certain cultures insurability and employment may be involved. The public perception of the biomedical community as advocates for wide-scale testing and screening may be interpreted, in some systems, as conflicts of interest on the part of entrepreneurial scientists, clinicians, and institutions. CONCLUSION: Many new opportunities for population-based screening will be evident in this era of genome-related discovery. Accordingly, some of the experiences with Tay-Sachs disease prevention may be instructive.


Assuntos
Aconselhamento Genético , Testes Genéticos/métodos , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/genética , Adolescente , Adulto , Canadá/epidemiologia , Hexosaminidase A , Humanos , Judeus/genética , Fatores de Risco , Doença de Tay-Sachs/etnologia , Estados Unidos/epidemiologia , beta-N-Acetil-Hexosaminidases/genética
18.
Mol Genet Metab ; 65(3): 250-3, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9851891

RESUMO

Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. The five mutations identified in this study were INS-5 G-->A, R393X, R137X, 12-bp deletion in exon 10, and G454D. The first three were reported in earlier studies, two in Turkish TSD infants and one in a French TSD infant.


Assuntos
Mutação , Doença de Tay-Sachs/genética , beta-N-Acetil-Hexosaminidases/genética , Consanguinidade , Hexosaminidase A , Homozigoto , Humanos , Lactente , Polimorfismo Conformacional de Fita Simples , Doença de Tay-Sachs/epidemiologia , Turquia
19.
Am J Hum Genet ; 60(5): 1099-106, 1997 May.
Artigo em Inglês | MEDLINE | ID: mdl-9150157

RESUMO

We have evaluated the feasibility of using PCR-based mutation screening for non-Jewish enzyme-defined carriers identified through Tay-Sachs disease-prevention programs. Although Tay-Sachs mutations are rare in the general population, non-Jewish individuals may be screened as spouses of Jewish carriers or as relatives of probands. In order to define a panel of alleles that might account for the majority of mutations in non-Jewish carriers, we investigated 26 independent alleles from 20 obligate carriers and 3 affected individuals. Eighteen alleles were represented by 12 previously identified mutations, 7 that were newly identified, and 1 that remains unidentified. We then investigated 46 enzyme-defined carrier alleles: 19 were pseudodeficiency alleles, and five mutations accounted for 15 other alleles. An eighth new mutation was detected among enzyme-defined carriers. Eleven alleles remain unidentified, despite the testing for 23 alleles. Some may represent false positives for the enzyme test. Our results indicate that predominant mutations, other than the two pseudodeficiency alleles (739C-->T and 745C-->T) and one disease allele (IVS9+1G-->A), do not occur in the general population. This suggests that it is not possible to define a collection of mutations that could identify an overwhelming majority of the alleles in non-Jews who may require Tay-Sachs carrier screening. We conclude that determination of carrier status by DNA analysis alone is inefficient because of the large proportion of rare alleles. Notwithstanding the possibility of false positives inherent to enzyme screening, this method remains an essential component of carrier screening in non-Jews. DNA screening can be best used as an adjunct to enzyme testing to exclude known HEXA pseudodeficiency alleles, the IVS9+1G-->A disease allele, and other mutations relevant to the subject's genetic heritage.


Assuntos
Testes Genéticos/métodos , Heterozigoto , Mutação , Doença de Tay-Sachs/genética , beta-N-Acetil-Hexosaminidases/genética , California , Grupos Étnicos , Hexosaminidase A , Humanos , Massachusetts , Reação em Cadeia da Polimerase , Doença de Tay-Sachs/epidemiologia , Doença de Tay-Sachs/prevenção & controle
20.
Curr Opin Pediatr ; 8(6): 625-9, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9018448

RESUMO

Tay-Sachs disease (TSD) is an autosomal recessive, neurodegenerative disorder caused by a deficiency of beta-hexosaminidase A activity. Mass screening for TSD heterozygotes has been routine in the Ashkenazi Jewish population since the early 1970s. Recent advances in the molecular genetics and epidemiology of TSD require a reevaluation of heterozygote screening practices. The use of DNA-based analyses for a panel of common mutations detects about 98% of TSD mutations found in the Ashkenazi Jews and about 50% of TSD mutations found in the general non-Jewish population; enzyme-based analysis has nearly 100% sensitivity for all populations. We recommend 1) that members of several ethnic groups and persons with a family history consistent with TSD be offered testing for TSD heterozygosity and 2) that assays of enzyme activity be used as the primary screening tool, with mutation analysis used as an adjunct tool in certain cases.


Assuntos
Triagem de Portadores Genéticos/métodos , Testes Genéticos/métodos , Doença de Tay-Sachs/genética , Frequência do Gene , Humanos , Programas de Rastreamento , Doença de Tay-Sachs/diagnóstico , Doença de Tay-Sachs/epidemiologia , beta-N-Acetil-Hexosaminidases/química
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