Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

被引:10
|
作者
Lee, JA
Cheung, SW
Ward, PA
Inoue, K
Lupski, JR
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan
[4] Texas Childrens Hosp, Houston, TX 77030 USA
关键词
gene duplication; DNA chip; PMD; FISH;
D O I
10.1002/pd.1308
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objectives To report a family with a history of Pelizaeus-Merzbacher disease (PMD) for which prenatal diagnosis of PLP1 gene duplication Status was attempted by the use of custom array comparative genomic hybridization (aCGH). Methods A 28-year-old woman was referred for genetic counseling for her then current pregnancy because her existing 3-year-old son was diagnosed with a classic form of PMD. At 11 and 3/7 weeks gestation. chorionic villus sampling (CVS) was performed. Custom aCGH and fluorescence in situ hybridization (FISH) analyses were also performed on the DNA from family members. Fetal karyotyping revealed 46,XY. Results Analysis by aCGH revealed that the male fetus was not duplicated for the PLP1 gene, but confirmed a duplicated PLP1 gene in the 3-year-old son, and that the mother was a duplication carrier. These results were independently confirmed by FISH analysis. aCGH and FISH analyses on DNA and cells derived from cord blood confirmed PLP1 nonduplication in the newborn. Conclusion aCGH is a reliable alternative method for detection of PLP1 copy number for prenatal diagnosis of Pelizaeus-Merzbacher disease. Copyright (C) 2005 John Wiley & Sons, Ltd.
引用
收藏
页码:1188 / 1191
页数:4
相关论文
共 50 条
  • [41] Gene copy number profiling of soft-tissue leiomyosarcomas by array-comparative genomic hybridization
    Larramendy, Marcelo L.
    Kaur, Sippy
    Svarvar, Catarina
    Bohling, Tom
    Knuutila, Sakari
    CANCER GENETICS AND CYTOGENETICS, 2006, 169 (02) : 94 - 101
  • [42] Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization
    Gokcumen, Omer
    Lee, Charles
    METHODS, 2009, 49 (01) : 18 - 25
  • [43] Identification of DNA copy-number aberrations by array-comparative genomic hybridization in patients with schizophrenia
    Moon, HJ
    Yim, SV
    Lee, WK
    Jeon, YW
    Kim, YH
    Ko, YJ
    Lee, KS
    Lee, KH
    Han, SI
    Rha, HK
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 344 (02) : 531 - 539
  • [44] PRENATAL ARRAY COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS AMONGST WOMEN CHOOSING INVASIVE PRENATAL DIAGNOSIS: A DECISION ANALYSIS
    Tran, Susan
    Shaffer, Brian
    Norton, Mary
    Malabed, Katherine
    Pena, Sherri
    Caughey, Aaron
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2008, 199 (06) : S163 - S163
  • [45] High-resolution array genomic hybridization in prenatal diagnosis
    Friedman, J. M.
    PRENATAL DIAGNOSIS, 2009, 29 (01) : 20 - 28
  • [46] Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada
    Duncan, Alessandra
    Langlois, Sylvie
    Wilson, R. Douglas
    Audibert, Francois
    Brock, Jo-Ann
    Carroll, June
    Cartier, Lola
    Gagnon, Alain
    Johnson, Jo-Ann
    Langlois, Sylvie
    Murphy-Kaulbeck, Lynn
    Okun, Nanette
    Pastuck, Melanie
    Langlois, Sylvie
    Chitayat, David
    DeBie, Isabelle
    Demczuk, Suzanne
    Desilets, Valerie A.
    Duncan, Alessandra
    Geraghty, Michael T.
    Marcadier, Janet
    Nelson, Tanya N.
    Siu, Vicky
    Skidmore, David
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA, 2011, 33 (12) : 1256 - 1259
  • [47] Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation
    Chen, Chih-Ping
    Su, Yi-Ning
    Chern, Schu-Rern
    Su, Jun-Wei
    Chen, Yu-Ting
    Lee, Chen-Chi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (03): : 485 - 488
  • [48] Microarray Techniques to Analyze Copy-Number Alterations in Genomic DNA: Array Comparative Genomic Hybridization and Single-Nucleotide Polymorphism Array
    Szuhai, Karoly
    Vermeer, Maarten
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 (10) : 1 - 5
  • [49] No DNA copy number changes in osteochondromas: A comparative genomic hybridization study
    Larramendy, ML
    Valle, J
    Tarkkanen, M
    Kivioja, AH
    Karaharju, E
    Salmivalli, T
    Elomaa, I
    Knuutila, S
    CANCER GENETICS AND CYTOGENETICS, 1997, 97 (01) : 76 - 78
  • [50] Comparative genomic hybridization array analysis and real-time PCR reveals genomic copy number alteration for lung adenocarcinomas
    Choi, Jin Soo
    Zheng, Long Tai
    Ha, Eunyoung
    Lim, Yun Jeong
    Kim, Yeul Hong
    Wang, Young-Pil
    Lim, Young
    LUNG, 2006, 184 (06) : 355 - 362