Table 5:
Crossover
| A: Summary | ||||||||
|---|---|---|---|---|---|---|---|---|
| Category | Families | Parents | Children | Meioses | A~C | C~B | B~DRB1 | DQB1~DPA1 |
| Trio | 31 | 62 | 31 | 62 | N/A | N/A | N/A | N/A |
| Quartet | 208 | 416 | 416 | 832 | 1 | 0 | 0 | 2 |
| Quintet or larger | 24 | 48 | 81 | 162 | 4 | 0 | 5 | 3 |
| Excluded | 0 | 0 | 1 | 2 | 0 | 1 | 0 | 0 |
| B: HLA-A~HLA-C crossover | ||||||||
| Family_ID | Sample_ID | Relation | HLA-A | HLA-C | HLA-B | Rec | ||
| 040 | 74A | child | A*68:02:01:01 | C*08:02:01:01 | B*14:02:01:01 | N | ||
| A*31:01:02:01 | C*04:01:01:01 | B*35:17:01 | N | |||||
| 74B | child | A*02:06:01:01 | C*08:02:01:01 | B*14:02:01:01 | Y | |||
| A*31:01:02:01 | C*04:01:01:01 | B*35:17:01 | N | |||||
| 748 | child | A*68:02:01:01 | C*08:02:01:01 | B*14:02:01:01 | N | |||
| A*31:01:02:01 | C*04:01:01:01 | B*35:17:01 | N | |||||
| 749 | father | A*68:02:01:01 | C*08:02:01:01 | B*14:02:01:01 | N | |||
| A*02:06:01:01 | C*15:02:01:01 | B*40:02:01 | N | |||||
| 74C | mother | A*31:01:02:01 | C*04:01:01:01 | B*35:17:01 | N | |||
| A*24:02:01:01 | C*03:03:01:01 | B*15:39:01 | N | |||||
| C: Rare HLA-C~HLA-B crossover | ||||||||
| Family_ID | Sample_ID | Relation | HLA-A | HLA-C | HLA-B | Rec | ||
| 077 | A4 | child | A*01:01:01:01 | C*07:01:01:01 | B*08:01:01:01 | N | ||
| A*25:01:01 | C*12:03:01:01 | B*18:01:01:02 | N | |||||
| A3 | child | A*33:01:01 | C*08:02:01:01 | B*14:02:01:01 | N | |||
| A*29:02:01:01 | C*16:01:01:01 | B*44:03:01:01 | N | |||||
| A2 | child | A*01:01:01:01 | C*07:01:01:01 | B*08:01:01:01 | N | |||
| A*29:02:01:01 | C*16:01:01:01 | B*44:03:01:01 | N | |||||
| A5 | child | A*33:01:01 | C*08:02:01:01 | B*08:01:01:01 | Y | |||
| A*29:02:01:01 | C*16:01:01:01 | B*44:03:01:01 | N | |||||
| A9 | father | A*01:01:01:01 | C*07:01:01:01 | B*08:01:01:01 | N | |||
| A*33:01:01 | C*08:02:01:01 | B*14:02:01:01 | N | |||||
| AA | mother | A*29:02:01:01 | C*16:01:01:01 | B*44:03:01:01 | N | |||
| A*25:01:01 | C*12:03:01:01 | B*18:01:01:02 | N | |||||
Table 5A shows breakdown of families included for chromosomal crossover analyses. “Trio”, “Quartet” and “Quintet or larger” represents trio, quartet and quintet or larger families, respectively. We added “Excluded” category to exclude a non-randomly identified HLA-B~HLA-C crossover case. “Families”, “Parents” and “Children” columns show the number of families, parents and children in each category, respectively. “Meioses” column shows the number of meiosis in each category. “A~C”, “C~B”, “B~DRB1” and “DQB1~DPA1” columns show the number of children identified in each category.
For Tables 5B and 5C, the “N” mark in Column “Rec” indicates no recombination, while the sign “Y” shows recombinant haplotype identified. Family-based haplotypes were built using HaplObserve from three children for family 040 and four children for family 077, respectively. Table 5B shows an HLA-A~HLA-C crossover event identified in family 040. Table 5C indicates a rare HLA-C~HLA-B crossover event found in family 077. Comparing three independent haplotype constructions from three trios for family 040, and four independent haplotype building from four trios for family 077 identified the recombination events.