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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
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BMC Medical Genomics

ISSN: 1755-8794

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