Analysis of ATM alleles in T-PLL
| Patients . | LOH analysis . | ATM mutation analysis . | GermlineATM mutation . | ||||
|---|---|---|---|---|---|---|---|
| cDNA . | Exon . | Protein . | ATM domain . | Genomic DNA . | |||
| TP2 (Lec) | LOH* | C7370T* | 51 | S2394L | Rad3 | C7370T | No |
| TP3 (Bat) | LOH* | 4182ins29* | 28/29 | frameshift | ND | ND | |
| TP4 (Ver) | No LOH* | 9216del3 | 65 | L2946_T2947delinsF | PI3K | 9216del3 | No |
| G8350T | 58 | D2721Y | PI3K | G8350T | No | ||
| TP8 (Mal) | LOH* | G7530T | 52 | D2448Y | G7530T | No | |
| TP10 (Imb) | LOH* | ND | ND | ||||
| TP13 (Van) | LOH* | G8861A | 62 | G2891D | PI3K | G8861A | No |
| TP15 (Ber) | LOH† | A7499G | 52 | Y2437C | A7499G | No | |
| TP19 (Jun) | LOH* | G8861A | 62 | G2891D | PI3K | G8861A | No |
| TP21 (Big) | LOH* | 2891insT* | 20 | frameshift | 2702insT | No | |
| TP22 (Bul) | LOH* | C7645G | 52 | R2486G | PI3K | C7645G | No |
| TP27 (Dia) | LOH* | 6536del105* | 46 | del35aa | Rad3 | GIVS46+1A | No |
| TP32 | LOH | C8284T | 57 | P2699S | PI3K | C8284T | No |
| TP33 | LOH | G8945A | 62 | G2919D | PI3K | G8945A | No |
| TP34 | LOH | ND | ND | ||||
| TP35 | No LOH | ND | ND | ||||
| TP36 | LOH | ND | ND | ||||
| Patients . | LOH analysis . | ATM mutation analysis . | GermlineATM mutation . | ||||
|---|---|---|---|---|---|---|---|
| cDNA . | Exon . | Protein . | ATM domain . | Genomic DNA . | |||
| TP2 (Lec) | LOH* | C7370T* | 51 | S2394L | Rad3 | C7370T | No |
| TP3 (Bat) | LOH* | 4182ins29* | 28/29 | frameshift | ND | ND | |
| TP4 (Ver) | No LOH* | 9216del3 | 65 | L2946_T2947delinsF | PI3K | 9216del3 | No |
| G8350T | 58 | D2721Y | PI3K | G8350T | No | ||
| TP8 (Mal) | LOH* | G7530T | 52 | D2448Y | G7530T | No | |
| TP10 (Imb) | LOH* | ND | ND | ||||
| TP13 (Van) | LOH* | G8861A | 62 | G2891D | PI3K | G8861A | No |
| TP15 (Ber) | LOH† | A7499G | 52 | Y2437C | A7499G | No | |
| TP19 (Jun) | LOH* | G8861A | 62 | G2891D | PI3K | G8861A | No |
| TP21 (Big) | LOH* | 2891insT* | 20 | frameshift | 2702insT | No | |
| TP22 (Bul) | LOH* | C7645G | 52 | R2486G | PI3K | C7645G | No |
| TP27 (Dia) | LOH* | 6536del105* | 46 | del35aa | Rad3 | GIVS46+1A | No |
| TP32 | LOH | C8284T | 57 | P2699S | PI3K | C8284T | No |
| TP33 | LOH | G8945A | 62 | G2919D | PI3K | G8945A | No |
| TP34 | LOH | ND | ND | ||||
| TP35 | No LOH | ND | ND | ||||
| TP36 | LOH | ND | ND | ||||
Numbering of nucleotides is based on the ATM transcript sequence (Genbank accession number U33841).
Abbreviations: LOH, loss of heterozygosity; ND, not determined; PI3K, phosphatidyl inositol 3 phosphate kinase homology domain; Rad3, Rad3 homology domain; aa, amino acid.
Results previously reported.4
LOH deduced from the homozygosity for the A7499G mutation (see text).