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.
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.
Authors: D Karolchik; R Baertsch; M Diekhans; T S Furey; A Hinrichs; Y T Lu; K M Roskin; M Schwartz; C W Sugnet; D J Thomas; R J Weber; D Haussler; W J Kent Journal: Nucleic Acids Res Date: 2003-01-01 Impact factor: 16.971
Authors: Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev Journal: Fertil Steril Date: 2004-08 Impact factor: 7.329
Authors: J C Harper; C de Die-Smulders; V Goossens; G Harton; C Moutou; S Repping; P N Scriven; S SenGupta; J Traeger-Synodinos; M C Van Rij; S Viville; L Wilton; K D Sermon Journal: Hum Reprod Date: 2008-01-31 Impact factor: 6.918
Authors: Y Verlinsky; S Rechitsky; O Verlinsky; D Kenigsberg; J Moshella; V Ivakhnenko; C Masciangelo; C Strom; A Kuliev Journal: Reprod Biomed Online Date: 2002 Jan-Feb Impact factor: 3.828