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Table 3 Summary of informative SNPs used to establish the whole haplotypes of the successfully transferred blastocysts

From: The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers

Familya Number of blastocysts Chromosome The total number of informative SNPs The average number of informative SNPs /Mb The number of recombination SNPs The location of recombination The location of breakpointb Weather recombination occurs in the breakpoint?
1 Embryo-1 5 1520 8.4 91 5:1-7,228,178(p15.33p15.31) 5q33.1 No
   22 401 7.8 0 NR 22q12 No
2 Embryo-4 16 823 9.1 148 16:1-9,724,564(p13.3p13.2) 16q23.1 No
   18 637 8.2 197 18:7,105,507-31,960,623(p11.23q12.1) 18q21.31 No
3 Embryo-6 12 1121 8.4 218 12:1-25,329,895(p13.33p12.1) 12p11.21 No
      163 12:117,913,186-133,851,895(q24.22q24.33)   No
   22 419 8.2 149 22:40,212,715-51,304,566(q13.1q13.33) 22q12.1 No
4 Embryo-1 11 1328 9.8 309 11:94,616,073-127,991,048(q21q24.3) 11p11.2 No
   16 648 7.2 209 16:1-16,599,806(p13.3p13.11) 16p12.3 No
5 Embryo-1 1 1802 7.2 763 1:15,110,819-116,270,101(p36.21p13.2) 1q21.2 No
      117 1:235,510,141-249,250,261(q42.3q44)   No
   19 482 8.2 115 19:51,465,236-59,128,983(q13.41q13.43) 19p13.11 No
6 Embryo-9 14 672 6.3 0 NR Centromere No
   21 350 7.3 0 NR Centromere No
7 Embryo-6 14 776 7.2 558 14:44,534,715-107,349,540(q21.2q32.33) Centromere No
   21 363 7.5 0 NR Centromere No
8 Embryo-2 14 787 7.3 192 14:65,512,354-89,493,151(q23.3q31.3) Centromere No
   15 785 7.7 0 NR Centromere No
9 Embryo-4c 6 1565 9.2 197 6:37,549,903-56,107,530(p21.2p12.1) 6q27 No
      58 6:60,539,141-65,772,043(q11.1q12)   No
      19 6:85,870,071-88,787,897(q14.3q15)   No
      40 6:168,092,007-171,115,067(q27)   No
   9 936 6.7 9 9:2,331,347-2,792,531(p24.3p24.2)   No
      424 9:5,098,509-77,784,684(p24.1q21.13) 9q22 No
  Embryo-4d 6 751 4.4 13 6:11,558,464-14,305,025(p24.2p23) 6q27 No
      197 6:37,549,903-56,107,530(p21.2p12.1)   No
      57 6:60,539,141-65,772,043(p11.1q12)   No
   9 367 2.6 179 9:12,809,535-76,736,238(p23q21.13) 9q22 NAe
  1. NR = no recombination; NA = not available
  2. aIn family10-11, as the unbalanced embryos were the only reference, the whole chromosome haplotypes couldn’t be established
  3. bThe breakpoints were identified by microarray results, except chromosome 22 in family1
  4. cThe carrier’s brother was used as a reference
  5. dThe carrier’s sister was used as a reference
  6. eThe haplotype couldn’t be established in this breakpoint region, for no informative SNPs existed