Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
OBJECTIVE
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.
Altarescu
Gheona
G
Medical Genetics Institute, ZOHAR PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel. gheona@szmc.org.il
Eldar-Geva
Talia
T
Brooks
Baruch
B
Zylber-Haran
Edith
E
Varshaver
Irit
I
Margalioth
Ehud J
EJ
Levy-Lahad
Ephrat
E
Renbaum
Paul
P
D000328:Adult; D001706:Biopsy; D001757:Blastomeres / Q000473:pathology; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D006801:Humans; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26