通过极体和卵裂球活检对非综合征性耳聋进行植入前基因诊断。
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
作者信息
Altarescu Gheona, Eldar-Geva Talia, Brooks Baruch, Zylber-Haran Edith, Varshaver Irit, Margalioth Ehud J, Levy-Lahad Ephrat, Renbaum Paul
机构信息
Medical Genetics Institute, ZOHAR PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel.
出版信息
J Assist Reprod Genet. 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5.
PURPOSE
Development of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PGD.
METHODS
The GJB2/GJB6 mutations along with 12 polymorphic markers were used in PGD analysis of blastomeres or polar bodies in 14 couples for 35 cycles. Marker informativity, diagnosis rates, Allele Drop Out (ADO) rates and PB1 heterozygosity rates were assessed.
RESULTS
Six cycles were performed by PB biopsy, 27 by blastomere and two combined cycles, resulting in delivery of three unaffected children and five ongoing pregnancies. Diagnosis rates for PB and blastomeres were similar. Only 17% PB1s were heterozygote. ADO rates of 19% were observed in both groups.
CONCLUSIONS
We have developed a single cell multiplex PGD protocol for nonsyndromic deafness with a high efficiency of diagnosis. Most PB1 are homozygous, and similar ADO rates were observed; therefore, blastomere biopsy appears to be the method of choice for this autosomal recessive disease.
目的
通过极体（PB）和卵裂球植入前基因诊断（PGD），开发一种高效且可靠的非综合征性耳聋PGD方案。
方法
在14对夫妇的35个周期中，将GJB2/GJB6突变以及12个多态性标记用于卵裂球或极体的PGD分析。评估标记信息性、诊断率、等位基因脱扣（ADO）率和第一极体（PB1）杂合率。
结果
通过极体活检进行了6个周期，通过卵裂球进行了27个周期，2个联合周期，结果有3名未受影响的儿童出生，5例妊娠仍在继续。极体和卵裂球的诊断率相似。仅17%的PB1为杂合子。两组的ADO率均为19%。
结论
我们开发了一种用于非综合征性耳聋的单细胞多重PGD方案，诊断效率高。大多数PB1是纯合子，且观察到相似的ADO率；因此，卵裂球活检似乎是这种常染色体隐性疾病的首选方法。
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