Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate
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DOI：
10.1002/ajmg.a.20426
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发表时间：
2004-02-15
影响因子：
2
通讯作者：
Hecht, JT
中科院分区：
文献类型：
--
作者：
Blanton, SH;Bertin, T;Hecht, JT
在美国，每年大约有4,000名患有非综合征性唇腭裂（NSCLP）的婴儿出生。由于非小细胞肺癌表现出病因和遗传异质性，试图确定潜在的遗传原因已经遇到了有限的成功和追求早期有希望的发现产生了混合的结果。最近的两次基因组扫描确定了一些暗示性的区域;其中一些结果得到了我们实验室和其他后续研究的支持。使用我们的NSCLP多重家族人群，我们能够提供额外的支持性证据，证明与基因组扫描中鉴定的2 q37，11 p12 -14，12 q13和16p13.11-p12区域相关。然而，仍然有一些额外的可行的候选基因和区域尚未得到充分的研究。这些包括NSCLP患者的染色体易位、生长因子基因、金属蛋白酶（MMP）和转录因子（模式化）基因，包括WNT家族中的基因。在这里，我们提出了从筛选与NSCLP相关的10 p13染色体易位区域，MMP基因聚集在染色体1 p36，11q22.3，16p13.3和16 q12 -13上，以及染色体3 p21上含有WNT 5A基因的区域的结果。来自三个区域的标记，10 p13，16p13.3（MMP 25）和3p21.2，产生了足够重要的结果，值得进一步研究。(C)2003 Wiley-Liss，Inc.
Approximately 4,000 babies with nonsyndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14,12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation. (C) 2003 Wiley-Liss, Inc.