Table 5.
Screening of Known BBS Genes in CAP Patients
| Gene | CAP Family | Mutationa | Location | Markersb | Candidate Region Size(Mb) |
| BBS3 | 4 | NC | 3p13-q12.3 | 68 | 31.7 |
| BBS4 | 1 | DEL | 15q22.31-q26.1 | 99 | 29.6 |
| BBS4 | 4 | NC | 15q14-q26.1 | 197 | 54.5 |
| BBS5 | 2 | DEL | 2q12.3-q31.1 | 226 | 67.8 |
| BBS6 | 1 | NC | 20p13-q13.13 | 152 | 47.2 |
| BBS6 | 7 | NC | 20p12.3-p12.1 | 187 | 6.9 |
| BBS7 | 5 | NC | 4q25-q28.1 | 37 | 13.1 |
| BBS7 | 7 | NC | 4q26-q31.1 | 567 | 26.1 |
| BBS7 | 8 | DEL | 4q26-q26.3 | 372 | 16.6 |
a
Results of screening the coding region of a known BBS gene. NC = no change and DEL = large intragenic deletion.
b
No. of contiguous homozygous SNPs defining the candidate region.