Lee Jennifer A, Cheung Sau W, Ward Patricia A, Inoue Ken, Lupski James R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Prenat Diagn. 2005 Dec;25(13):1188-91. doi: 10.1002/pd.1308.
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).
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.
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.
aCGH is a reliable alternative method for detection of PLP1 copy number for prenatal diagnosis of Pelizaeus-Merzbacher disease.
报告一个患有佩利措伊斯-梅茨巴赫病（PMD）的家族，尝试通过定制阵列比较基因组杂交（aCGH）对PLP1基因重复状态进行产前诊断。
一名28岁女性因当时怀孕前来接受遗传咨询，因为她现有的3岁儿子被诊断患有典型形式的PMD。妊娠11周加3/7周时，进行了绒毛取样（CVS）。还对家庭成员的DNA进行了定制aCGH和荧光原位杂交（FISH）分析。胎儿核型分析显示为46,XY。
aCGH分析显示，男性胎儿的PLP1基因没有重复，但证实3岁儿子的PLP1基因存在重复，且母亲是重复携带者。这些结果通过FISH分析得到独立证实。对脐带血来源的DNA和细胞进行的aCGH和FISH分析证实新生儿的PLP1基因未重复。
aCGH是用于佩利措伊斯-梅茨巴赫病产前诊断检测PLP1拷贝数的可靠替代方法。
