2.50
Hdl Handle:
http://hdl.handle.net/10755/151838
Type:
Presentation
Title:
Environment and Genetic Risks for Urban Children
Abstract:
Environment and Genetic Risks for Urban Children
Conference Sponsor:Sigma Theta Tau International
Conference Year:2002
Conference Date:July, 2002
Author:Long, Jacquelyn
P.I. Institution Name:Wayne State University
Title:Graduate Student
Objective: This study will explore the incidence of children in the metropolitan Detroit area who are heterozygous (Xx) for the genetic polymorphism arylsulfatase A (ASA), and have also been identified as being exposed to the environmental toxin lead (Pb). Such exposure in children with the ASA polymorphism have been posited as associated with increased risk for neurodevelopmental damage. This is an initial study that contributes to this new field and supports development of finer tuned methods to prevent ominous outcomes of lead exposure. Design: This is a correlationally-designed study of 100 African American children between the ages of 5-7. Population and Sample: All of the 100 children sampled were between the ages of 5-7. This sample included children of African American heritage and had whole blood lead levels less than or equal to 16.1 mg/dl. Setting: This study is a representative sample of a Midwest metropolitan city (Detroit, Michigan) of one million in population whom test positive for the arylsulfatase A (ASA) polymorphism and have been exposed to the environmental toxin lead. Variables Studied: The variables of interest in this study are ASA genotype and level of environmental lead exposure. Methods: This study is corollary to a larger Parent study conducted to investigate the first grade school outcomes of prenatal substance exposure. The details of the methods used in the Parent study appear in Delaney-Black, et al. (2000). Pediatric families who had participated in the parent study (N=100) and who had whole blood analysis of current lead exposure and genotype were the sample for the corollary study. Clinic visits were made to obtain the whole blood specimen and collect a buccal swab for genotyping for the ASA polymorphism. DNA analysis of ASA buccal swabs were performed at Rutgers University using the polymerase chain reaction (PCR) technique. Findings: Out of the 100 children sampled, over 43 % had a normal genotype, while over 44% of the children were heterozygous for the ASA gene, meaning that these children carried the allelic variance of the autosomal recessive trait for Metachromatic Leukodystrophy (MLD) as shown in Table 3. Within the sample, some children (over 11 %) were found to have the mutant homozygous phenotype(xx). Interestingly, such a phenotype typically results in MLD. Within this sample, whole blood level mean was 5.016 mg/dl, and ranged from 0.2 mg/dl to 16.1 mg/dl. Conclusion: The data reported here reflects a convenience sample and therefore cannot be considered a representative portion of the population. However, the data suggests that a significant portion of the population sampled had the carrier (Xx) status of the ASA polymorphism. Although carriers of the ASA gene may not exhibit any of the symptomatology that homozygous mutant ASA children have (MLD), it is quite plausible that the heterozygous form of ASA may have some of the deleterious neurobehavioral effects when given the additive environmental insult of lead exposure. Since it is not quite understood why some children at low levels of lead exposure (<20mg/dl) show signs of neurodeficiencies that children at high levels of lead display, it is reasonable to posit a relation between heterozygous ASA and low lead exposure. In this corollary study, lead levels did not exceed 16.1 ug/dl, thus the lead to ASA status relation could not be evaluated sufficiently. Further studies based on pediatric samples with lead poisoning are underway by other lead investigators. Implication: Now that children with the ASA pseudodeficiency have been identified, other studies may be conducted to investigate the relation between ASA polymorphism and environmental effects of lead exposure in urban children. This information represents an addition to the nursing profession by enhancing nursing knowledge of genetic disease and environmental toxins that may induce the phenotypic expression of heterozygotic polymorphisms in children. In order to provide the most up to date cutting edge care to children, nurses need to remain current in genetics research that will increase their awareness of genetic aberrations in the pediatric population as well as possible environmental threats that may enhance the expression of these underlying conditions. Information from this study regarding the synergistic affects of genetics and environmental toxins in the pediatric population should propel other nurse scientists to explore other possibilities in genetics research. Further research on neurodeficiencies and neurobehavior must be conducted before a relation between ASA and environmental lead can be determined.

Repository Posting Date:
26-Oct-2011
Date of Publication:
Jul-2002
Sponsors:
Sigma Theta Tau International

Full metadata record

DC FieldValue Language
dc.typePresentationen_GB
dc.titleEnvironment and Genetic Risks for Urban Childrenen_GB
dc.identifier.urihttp://hdl.handle.net/10755/151838-
dc.description.abstract<table><tr><td colspan="2" class="item-title">Environment and Genetic Risks for Urban Children</td></tr><tr class="item-sponsor"><td class="label">Conference Sponsor:</td><td class="value">Sigma Theta Tau International</td></tr><tr class="item-year"><td class="label">Conference Year:</td><td class="value">2002</td></tr><tr class="item-conference-date"><td class="label">Conference Date:</td><td class="value">July, 2002</td></tr><tr class="item-author"><td class="label">Author:</td><td class="value">Long, Jacquelyn</td></tr><tr class="item-institute"><td class="label">P.I. Institution Name:</td><td class="value">Wayne State University</td></tr><tr class="item-author-title"><td class="label">Title:</td><td class="value">Graduate Student</td></tr><tr class="item-email"><td class="label">Email:</td><td class="value">longj007@netscape.net</td></tr><tr><td colspan="2" class="item-abstract">Objective: This study will explore the incidence of children in the metropolitan Detroit area who are heterozygous (Xx) for the genetic polymorphism arylsulfatase A (ASA), and have also been identified as being exposed to the environmental toxin lead (Pb). Such exposure in children with the ASA polymorphism have been posited as associated with increased risk for neurodevelopmental damage. This is an initial study that contributes to this new field and supports development of finer tuned methods to prevent ominous outcomes of lead exposure. Design: This is a correlationally-designed study of 100 African American children between the ages of 5-7. Population and Sample: All of the 100 children sampled were between the ages of 5-7. This sample included children of African American heritage and had whole blood lead levels less than or equal to 16.1 mg/dl. Setting: This study is a representative sample of a Midwest metropolitan city (Detroit, Michigan) of one million in population whom test positive for the arylsulfatase A (ASA) polymorphism and have been exposed to the environmental toxin lead. Variables Studied: The variables of interest in this study are ASA genotype and level of environmental lead exposure. Methods: This study is corollary to a larger Parent study conducted to investigate the first grade school outcomes of prenatal substance exposure. The details of the methods used in the Parent study appear in Delaney-Black, et al. (2000). Pediatric families who had participated in the parent study (N=100) and who had whole blood analysis of current lead exposure and genotype were the sample for the corollary study. Clinic visits were made to obtain the whole blood specimen and collect a buccal swab for genotyping for the ASA polymorphism. DNA analysis of ASA buccal swabs were performed at Rutgers University using the polymerase chain reaction (PCR) technique. Findings: Out of the 100 children sampled, over 43 % had a normal genotype, while over 44% of the children were heterozygous for the ASA gene, meaning that these children carried the allelic variance of the autosomal recessive trait for Metachromatic Leukodystrophy (MLD) as shown in Table 3. Within the sample, some children (over 11 %) were found to have the mutant homozygous phenotype(xx). Interestingly, such a phenotype typically results in MLD. Within this sample, whole blood level mean was 5.016 mg/dl, and ranged from 0.2 mg/dl to 16.1 mg/dl. Conclusion: The data reported here reflects a convenience sample and therefore cannot be considered a representative portion of the population. However, the data suggests that a significant portion of the population sampled had the carrier (Xx) status of the ASA polymorphism. Although carriers of the ASA gene may not exhibit any of the symptomatology that homozygous mutant ASA children have (MLD), it is quite plausible that the heterozygous form of ASA may have some of the deleterious neurobehavioral effects when given the additive environmental insult of lead exposure. Since it is not quite understood why some children at low levels of lead exposure (&lt;20mg/dl) show signs of neurodeficiencies that children at high levels of lead display, it is reasonable to posit a relation between heterozygous ASA and low lead exposure. In this corollary study, lead levels did not exceed 16.1 ug/dl, thus the lead to ASA status relation could not be evaluated sufficiently. Further studies based on pediatric samples with lead poisoning are underway by other lead investigators. Implication: Now that children with the ASA pseudodeficiency have been identified, other studies may be conducted to investigate the relation between ASA polymorphism and environmental effects of lead exposure in urban children. This information represents an addition to the nursing profession by enhancing nursing knowledge of genetic disease and environmental toxins that may induce the phenotypic expression of heterozygotic polymorphisms in children. In order to provide the most up to date cutting edge care to children, nurses need to remain current in genetics research that will increase their awareness of genetic aberrations in the pediatric population as well as possible environmental threats that may enhance the expression of these underlying conditions. Information from this study regarding the synergistic affects of genetics and environmental toxins in the pediatric population should propel other nurse scientists to explore other possibilities in genetics research. Further research on neurodeficiencies and neurobehavior must be conducted before a relation between ASA and environmental lead can be determined.<br/><br/></td></tr></table>en_GB
dc.date.available2011-10-26T11:15:22Z-
dc.date.issued2002-07en_GB
dc.date.accessioned2011-10-26T11:15:22Z-
dc.description.sponsorshipSigma Theta Tau Internationalen_GB
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