PMID- 18983756
OWN - NLM
STAT- MEDLINE
DCOM- 20090128
LR  - 20190917
IS  - 1472-6491 (Electronic)
IS  - 1472-6483 (Linking)
VI  - 17
IP  - 5
DP  - 2008 Nov
TI  - PGD of beta-thalassaemia and HLA haplotypes using OmniPlex whole genome 
      amplification.
PG  - 699-705
AB  - A strategy was developed using the OmniPlex technology of whole genome 
      amplification for preimplantation genetic diagnosis (PGD) of single gene diseases 
      and human leukocyte antigen (HLA) haplotypes. The amplified genomic DNA library 
      was subsequently examined separately for mutation analysis with mini-sequence and 
      for short tandem repeat (STR) markers within the HLA loci. To evaluate the 
      reliability of the protocol prior to PGD, tests of 50 single lymphocytes revealed 
      an amplification efficiency of 92-96% and allele drop-out (ADO) rate of 6-16%. 
      The strategy was validated in one beta-thalassaemia family having an affected 
      boy. The couple underwent three cycles of ovarian stimulation and 
      intracytoplasmic sperm injection for PGD. On 16 embryos tested, the amplification 
      efficiency was 88-94% and ADO was 6-19%. Two cycles of embryo transfer were 
      performed, and one pregnancy was achieved. The genotypes of the fetus were shown 
      to be unaffected and HLA-identical, in agreement with PGD, by chorionic villus 
      sampling. The cord blood stem cells from the newborn can be used to treat the 
      affected sibling. This study demonstrates the first successful application of 
      OmniPlex whole genome amplification in PGD of a single gene disorder for 
      selecting unaffected and HLA-compatible embryos.
FAU - Chen, Shee-Uan
AU  - Chen SU
AD  - Department of Obstetrics and Gynecology, National Taiwan University Hospital, 
      Taipei, Taiwan.
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Fang, Mei-Ya
AU  - Fang MY
FAU - Chang, Li-Jung
AU  - Chang LJ
FAU - Tsai, Yi-Yi
AU  - Tsai YY
FAU - Lin, Li-Ting
AU  - Lin LT
FAU - Lee, Chien-Nan
AU  - Lee CN
FAU - Yang, Yu-Shih
AU  - Yang YS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Reprod Biomed Online
JT  - Reproductive biomedicine online
JID - 101122473
RN  - 0 (DNA Primers)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Child, Preschool
MH  - DNA Primers/genetics
MH  - Female
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Nucleic Acid Amplification Techniques
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Reproductive Techniques, Assisted
MH  - beta-Thalassemia/*diagnosis/*genetics
EDAT- 2008/11/06 09:00
MHDA- 2009/01/29 09:00
CRDT- 2008/11/06 09:00
PHST- 2008/11/06 09:00 [pubmed]
PHST- 2009/01/29 09:00 [medline]
PHST- 2008/11/06 09:00 [entrez]
AID - S1472-6483(10)60319-7 [pii]
AID - 10.1016/s1472-6483(10)60319-7 [doi]
PST - ppublish
SO  - Reprod Biomed Online. 2008 Nov;17(5):699-705. doi: 10.1016/s1472-6483(10)60319-7.