Farndon P A, Morris D J, Hardy C, McConville C M, Weissenbach J, Kilpatrick M W, Reis A
University Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, United Kingdom.
Genomics. 1994 Sep 15;23(2):486-9. doi: 10.1006/geno.1994.1528.
Four disease genes (NBCCS, ESS1, XPAC, FACC) map to 9q22.3-q31. A fine map of this region was produced by linkage and haplotype analysis using 12 DNA markers. The gene for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin) has an important role in congenital malformations and carcinogenesis. Phase-known recombinants in a study of 133 meioses place NBCCS between (D9S12/D9S151) and D9S176. Haplotype analysis in a two-generation family suggests that NBCCS lies in a smaller interval of 2.6 cM centromeric to D9S287. These flanking markers will be useful clinically for gene tracking. Recombinants also map FACC (Fanconi anemia, group C) to the same region, between (D9S196/D9S197) and D9S287. The recombination rate between (D9S12/D9S151) and D9S53 in males is 8.3% and 13.2% in females, giving a sex-specific male:female ratio of 1:1.6 and a sex-averaged map distance of 10.4 cM. No double recombinants were detected, in agreement with the apparently complete level of interference predicted from the male chiasmata map.
四个疾病基因（NBCCS、ESS1、XPAC、FACC）定位于9q22.3 - q31。利用12个DNA标记通过连锁和单倍型分析构建了该区域的精细图谱。痣样基底细胞癌综合征（NBCCS，Gorlin综合征）基因在先天性畸形和致癌过程中起重要作用。在一项对133次减数分裂的研究中，已知相位的重组体将NBCCS定位于（D9S12/D9S151）和D9S176之间。对一个两代家族的单倍型分析表明，NBCCS位于着丝粒方向距D9S287 2.6厘摩的较小区间内。这些侧翼标记在临床上对基因追踪将很有用。重组体还将FACC（范可尼贫血C组）定位于同一区域，在（D9S196/D9S197）和D9S287之间。男性中（D9S12/D9S151）与D9S53之间的重组率为8.3%，女性为13.2%，性别特异性的男女性别比为1:1.6，性别平均图谱距离为10.4厘摩。未检测到双重组体，这与根据男性交叉图谱预测的明显完全干扰水平一致。
