Pandya A, Blanton S H, Landa B, Javaheri R, Melvin E, Nance W E, Markello T
Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298-0033, USA.
Genomics. 1996 Dec 1;38(2):227-30. doi: 10.1006/geno.1996.0620.
We report localization of the gene for autosomal dominant hereditary pancreatitis (HP) to a small region of the long arm of chromosome 7 in a large four-generation kindred. Affected family members may first become symptomatic in childhood or even infancy with progression to pancreatic calcification, pseudocyst formation, endocrine and exocrine insufficiency, and even pancreatic cancer in some cases. However, obligate gene carriers may remain virtually symptom free throughout life. HP is the most common cause of childhood pancreatitis in the United States. Gene mapping with microsatellite markers demonstrates that HP is tightly linked to the marker D7S684 (Zmax = 7.0, theta = 0.0). Three obligate recombinants place the HP locus within a 16-cM interval between markers D7S495 and D7S688. This confirms the localization of HP to 7q reported in a separate French kindred (2).
我们报告了在一个四代大家庭中，常染色体显性遗传性胰腺炎（HP）基因定位于7号染色体长臂的一个小区域。受影响的家庭成员可能在儿童期甚至婴儿期就首次出现症状，病情会发展为胰腺钙化、假性囊肿形成、内分泌和外分泌功能不全，在某些情况下甚至会发展为胰腺癌。然而，基因携带者在一生中可能几乎没有症状。在美国，HP是儿童胰腺炎最常见的病因。用微卫星标记进行基因定位表明，HP与标记D7S684紧密连锁（Zmax = 7.0，theta = 0.）。三个明确的重组体将HP基因座定位于标记D7S495和D7S688之间16厘摩的区间内。这证实了在另一个法国家族中报道的HP定位于7q（2）。
