Table 1 Detailed description of sperm donations.

From: DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

DM1 patient

Age

CTG copiesa

Sperm total motile count (TMC)

Sperm quality (volume, sperm count/ml, motility, morphology)

Fertilization rate by ICSI

Average levels of methylation in sperm

DM1 hESC lines (CTG copies)b

A

35

N/A

2 × 103–5 × 102

Severe OTA (3 ml, <1 × 106, 10%, 2%)

63–67%

13%

SZ-DM1 (1000)

SZ-DM2 (430, 500, 1000)

SZ-DM6 (1060)

SZ-DM11 (500)

SZ-DM12 (630)

SZ-DM20 (300)

E

37

700

18.8 × 106

OTAd (5 ml, 3 × 106, 30%, 2%)

92–100%

2%

SZ-DM7 (300)

I

28

1000

16 × 106

Teratoospermia (2 ml, 80 × 106, 66%, 1%)

61%

30%

–

D

31

~300c

200 × 106

Normospermia (5 ml, 24 × 106, 50%, 10%)

100%

2.5%

SZ-DM5 (300)

  1. N/A data not available.
  2. aCTG copy number was determined in blood samples of all patients and human embryonic stem cell (hESC) lines by fragment length analysis of restriction digested genomic DNA resolved by agarose gel electrophoresis and detected by Southern blot hybridization with a DIG-labeled probe, excluding patient A, who was diagnosed by linkage analysis. The estimated allele lengths (determined by the modal allele length from the dense part of the smear) are confounded by the age-dependent and expansion-biased nature of somatic mosaicism and thus may not reflect the inherited allele length.
  3. bDM1 affected embryos were obtained in all patients during PGD procedures.
  4. cRepeat length of patient D was determined by PCR analysis as described in ref. [20].
  5. dOligoasthenoteratozoospermia.
Back to article page