Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE).

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Research Abstract Details 

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Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Abstract Text:

Nanbert Zhong,Weina Ju,Dorota Moroziewicz,Anetta Wronska,Marilyn Li,Krystyna Wisniewski,Susan Sklower Brooks,Edmund Jenkins,W Ted Brown,

Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN(1 ) and CLN(2), respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA sequencing was performed in nine pregnancies, four from two NCL1 families and five from five NCL2 families. Lysosomal enzyme activity assays were carried out as well.Four fetuses from three pregnancies in NCL1 families were found to be carriers for a mutation 451C-T in the CLN(1) gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN(2) gene showed that all fetuses were carriers. In NCL2 families who carried either mutation IVS5-1C or/and IVS5-1A two normal pregnancies were detected. Our studies indicate that DNA testing, which may provide definitive prenatal diagnosis for NCL, may be used in combination with lysosomal enzyme activity analyses.

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Publishing Authors By Initials

N Zhong,W Ju,D Moroziewicz,A Wronska,M Li,K Wisniewski,SS Brooks,E Jenkins,WT Brown,

For similar diagnosis: diagnostic techniques and procedures: diagnostic techniques, obstetrical and gynecological: prenatal diagnosis research abstracts see: diagnosis: diagnostic techniques and procedures: diagnostic techniques, obstetrical and gynecological: prenatal diagnosis research

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Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Beijing da xue xue bao. Yi xue ban = Journal of Pe

VOLUME: 37

Page Numbers: 20-5

Journal Abbreviation: Beijing Da Xue Xue Bao

ISSN: 1671-167X

DAY: 18

MONTH: Feb

YEAR: 2005

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Information

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LANGUAGE: eng

NlmUniqueID: 101125284

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). Keywords Mesh Terms:

KEYWORDS: Prenatal Diagnosis

MESH TERMS: genetics

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Grant and Affiliation Information for Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE).

AFFILIATION: Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. lbrsclmndl@aol.com

Country: China

AGENCY: United States NINDS

GRANT: R21 NS042806

ACRONYM: NS

MEDLINETA: Beijing Da Xue Xue Bao

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