Table I.
Age- and gender-specific processing of coding signatures at the HPRT locus
| Preterm Newborns
|
Full-Term Newborns
|
1–12.5 Year Olds
|
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Male | Female | Total | Male | Female | Total | All Newborns | Male | Female | Total | All Samples | |
| No. of patients | 11 | 8 | 19 | 29 | 23 | 52 | 71 | 22 | 18 | 40 | 111 |
| No. of coding joints | 21 | 19 | 40 | 104 | 66 | 170 | 210 | 34 | 21 | 55 | 265 |
| P-ntds at coding ends %a | 55.56 | 55.56 | 55.56 | 56.36 | 59.09 | 57.14 | 56.84 | 47.83 | 50.00 | 48.57 | 54.62 |
| 5′-P-ntds at coding endsa | 4/7 | 5/7 | 9/14 | 23/38 | 9/16 | 32/54 | 41/68 | 8/16 | 5/9 | 13/25 | 54/93 |
| 3′-P-ntds at coding endsa | 1/2 | 0/2 | 1/4 | 8/17 | 4/6 | 12/23 | 13/27 | 3/7 | 1/3 | 4/10 | 17/37 |
| 5′ and 3′ P-ntds | 1 | 0 | 1 | 3 | 0 | 3 | 4 | 1 | 0 | 1 | 5 |
| N-ntd free coding joints % | 23.80 | 10.53 | 17.50 | 13.46 | 7.60 | 11.17 | 12.38 | 8.82 | 0 | 5.45 | 10.94 |
| GC content of N-ntds % | 47 | 65 | 55 | 58 | 62 | 59 | 58 | 60 | 57 | 58 | 59 |
| Pr-ntds at coding ends %b | 3.70 | 14.29 | 9.09 | 30.00 | 35.78 | 32.43 | 28.34 | 25.00 | 30.30 | 27.16 | 28.10 |
| Pr-ntd in junctions %b | 6.25 | 23.53 | 15.15 | 43.33 | 55.74 | 48.34 | 42.39 | 32.26 | 47.62 | 38.62 | 41.53 |
| Ratio of Pr-ntds/junctionb | 1/16 | 4/17 | 5/33 | 39/90 | 34/61 | 73/151 | 10/31 | 10/21 | 20/52 | ||
| Average N-ntd inserts bpb | 6.2 (5.6) | 5.5 (3.1) | 5.9 (4.9) | 5.2 (3.5) | 5.1 (3.1) | 5.2 (3.4) | 5.3 (3.6) | 6.1 (3.1) | 6.1 (3.7) | 6.1 (3.3) | 5.5 (3.5) |
| Ntd excision at coding ends % | 83.33 | 76.32 | 80 | 73.33 | 83.33 | 77.22 | 77.75 | 66.18 | 71.43 | 68.18 | 75.76 |
| 5′ excisions % | 76.19 | 63.16 | 70 | 63.11 | 75.76 | 68.05 | 68.42 | 52.94 | 57.14 | 54.55 | 65.54 |
| 3′ excisions % | 90.49 | 89.47 | 90 | 83.50 | 90.91 | 86.39 | 87.08 | 79.42 | 85.71 | 81.18 | 85.86 |
| Average ntds lossc | 6.5 (6.7) | 6.8 (6.8) | 6.7 (6.7) | 7.7 (6.0) | 7.9 (7.1) | 7.8 (6.4) | 7.6 (6.5) | 5.9 (3.8) | 4.7 (2.6) | 5.4 (3.4) | 7.2 (6.0) |
| 5′ excisionsc | 2.3 (1.2) | 3.3 (2.5) | 2.7 (2.0) | 3.2 (3.2) | 4.2 (4.9) | 3.7 (4.0) | 3.5 (3.8) | 3.1 (2.3) | 3.3 (2.3) | 3.2 (2.3) | 3.4 (3.5) |
| 3′ excisionsc | 4.8 (6.1) | 5.4 (5.4) | 5.1 (5.7) | 6.2 (5.4) | 5.0 (4.4) | 5.7 (5.0) | 5.9 (5.1) | 4.5 (2.6) | 3.0 (2.1) | 3.9 (2.5) | 5.3 (4.8) |
a
Observed at unprocessed coding ends class I HPRT deletions, when separated into 5′ or 3′ P-ntds (number of ends with P-ntds/total unprocessed ends).
b
Calculated from coding junctions with N-nucleotide insertions.
c
Calculated from coding ends or junctions with nucleotide loss. SD are provided in parenthesis.