Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies
Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies
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DOI：
10.1016/s1472-6483(10)60985-6
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发表时间：
2006-01-01
影响因子：
4
通讯作者：
Kuliev, A
中科院分区：
文献类型：
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作者：
Verlinsky, Y;Rechitsky, S;Kuliev, A
Pelizaeus-Merzbacher病(PMD)是一种X连锁的隐性中枢神经系统脱髓鞘疾病，由蛋白脂蛋白I基因(PLP1基因)突变引起。由于PMD尚无特效治疗方法，植入前基因诊断(PGD)对于携带该突变的夫妇可能是一个有用的选择。对一对PLP1基因外显子3 L86P突变的夫妇进行了PGD检查。由于孕妇年龄较高，对这种单基因疾病进行了PGD，同时进行了染色体异常检测。对极体和卵裂球进行了母体突变和紧密连锁标记DXS8020和PLP5‘(CA)n的检测，并对这些卵裂球进行了13、16、18、21、22、X和Y染色体的拷贝数检测，发现了5个染色体异常的胚胎。共有三个预计不受影响且没有染色体紊乱的胚胎被转移回患者，导致双胞胎怀孕，两个健康的女婴被证实没有PMD，这是第一个PMD结合非整倍体检测的PGD。
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive demyelinating disorder of the central nervous system, caused by mutations of the proteolipid protein I gene (PLP1 gene). As no specific therapy is available for PMD, preimplantation genetic diagnosis (PGD) may be a useful option for couples carrying this mutation. PGD was performed for a couple who had had one child with the L86P mutation in exon 3 of the PLP1 gene. Because of advanced maternal age, PGD for this single-gene disorder was performed together with testing for chromosomal abnormalities. Polar bodies and blastomeres were tested for the presence of maternal mutation and closely linked markers DXS8020 and PLP5' (CA)n. The same blastomeres were also tested for the copy number of chromosomes 13, 16,18, 21, 22, X and Y, and five chromosomally abnormal embryos were identified. A total of three embryos predicted to be unaffected and free of chromosomal disorder were transferred back to the patient, resulting in a twin pregnancy and the birth of two healthy female infants confirmed to be free of PMD, representing the first PGD for PMD combined with aneuploidy testing.