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| 等位基因特异性引物延伸法在婴儿型和幼儿型神经元蜡样质脂褐质沉积病产前诊断中的应用 | |
| 引用本文： | Nanbert Zhong,Weina JU,Dorota MOROZIEWICZ,Anetta WRONSKA,Marilyn LI,Krystyna WISNIEWSKI,Susan Sklower BROOKS,Edmund JENKINS,W.Ted BROWN. 等位基因特异性引物延伸法在婴儿型和幼儿型神经元蜡样质脂褐质沉积病产前诊断中的应用[J]. 北京大学学报(医学版), 2005, 37(1): 20-25 |
| 作者姓名： | Nanbert Zhong Weina JU Dorota MOROZIEWICZ Anetta WRONSKA Marilyn LI Krystyna WISNIEWSKI Susan Sklower BROOKS Edmund JENKINS W.Ted BROWN |
| 作者单位： | Departments of Human Genetics，Departments of Human Genetics，Departments of Human Genetics，Cytogenetics Laboratory，Hayward Genetics Center，Tulane University Health Science Center，New Orleans，LA，USA，Developmental Neurobiology，New York State Institute for Basic Research in Developmental Disabilities，Staten Island，NY 10314，USA，Departments of Human Genetics，Cytogenetics，Departments of Human Genetics |
| 基金项目： | theNewYorkStateOfficeofMentalRetardationandDevelopmentalDisabilities (OMRDD),theBattenDiseaseSupportandResearchFoundation (BDSRA) ,theChildren’sBrainDiseasesFoundation (CBDF) ,andNIH/NINDS (R2 1NS0 4 2 80 6) |
| 摘 要： | Theinfantile (INCL ,NCL1,OMIM :2 5 6 730 )andlate infantile (LINCL ,NCL2 ,OMIM :2 0 4 5 0 0 )neuronalceroid lipofuscinosis (NCLs)areamongthemostcommonchildhoodlysosomallipid proteindisor ders.Theyarecharacterizedbyrapidlyincreasingseverityofseizures ;dete… |
| 关 键 词： | 产前诊断 分子诊断技术 神经元蜡样质脂褐质沉积病 等位基因特异性引物延伸法 溶酶体脂蛋白沉积病 |
Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE) |
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| Nanbert Zhong,Weina JU,Dorota MOROZIEWICZ,Anetta WRONSKA,Marilyn LI,Krystyna WISNIEWSKI,Susan Sklower BROOKS,Edmund JENKINS,W.Ted BROWN. Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE)[J]. Journal of Peking University. Health sciences, 2005, 37(1): 20-25 | |
| Authors: | Nanbert Zhong Weina JU Dorota MOROZIEWICZ Anetta WRONSKA Marilyn LI Krystyna WISNIEWSKI Susan Sklower BROOKS Edmund JENKINS W.Ted BROWN |
| Affiliation: | 1. Departments of Human Genetics,New York State Institute for Basic Research in Developmental Disabilities,Staten Island, NY 10314, USA 2. Cytogenetics Laboratory, Hayward Genetics Center, Tulane University Health Science Center, New Orleans, LA, USA 3. Developmental Neurobiology ,New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA 4. Departments of Human Cytogenetics,New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA |
| Abstract: | SUMMARY Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN1 and CLN2, 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 CLN1 gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN2 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. |
| Keywords: | Prenatal diagnosis Molecular diagnostic techniques Neuronal ceroid-lipofuscinosis Allele specific primer extension (ASPE) Lysosomal lipoprotein storage disease |
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