巴基斯坦巴哈瓦尔纳加尔地区某些人类家庭中并趾遗传模式的研究

Muhammad Najam-ul-Hassan Khan, Muhammad Saleem Khan, Shozab Khan, Hina Naz, A. Waheed, Hasnain Akmal, M. Wajid
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摘要

并指是指脚和手手指的蹼的连接或合并。它以常染色体显性、常染色体隐性、x连锁和y连锁方式遗传。其患病率约为每2000例活产婴儿中有1例。无证并指分为九种类型。在本研究中,我们了解了巴哈瓦尔纳加尔地区家庭中并指病的患病率、百分比、类型和遗传方式。调查在巴哈瓦尔纳加尔县的医院、学校和村庄进行,以找出先天性并指畸形患者。有表亲结婚的三个家庭被选为家谱。这些家庭的足和手并指比例为2:1。所有家庭中并指完整和不完整的比例均为50%。遗传模式为常染色体显性遗传和常染色体隐性遗传,因为有2种并指型I (SD1)和并指型I-c。在Bwn1、Bwn2和Bwn3家族中,并指发生率分别为16%、9.7%和6.89%。有人进一步指出,所有家庭的所有男性成员都患有并指畸形。本研究在研究样本人群中发现I型(SD1)和I-c型并指。
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Mode of inheritance of syndactyly in selected human families in Bahawalnagar, Pakistan
Syndactyly is joining or merging of web in feet and hands digits. It is inherited by autosomal dominant, autosomal recessive, x-linked, and y-linked manner. Its prevalence is around 1 in 2000 live birth. Non-syndromic syndactyly is classified into nine types. In this study, we find out prevalence, percentage, types, and mode of inheritance of syndactyly in families of district Bahawalnagar. The survey was carried out in hospitals, schools, and villages of district Bahawalnagar to find out the patients with congenital syndactyly. Three families with cousin marriages were selected for pedigrees. These families had 2:1 of foot and hand syndactyly. The percentage of complete and incomplete syndactyly was recorded 50% in all families. The mode of inheritance was autosomal dominant and autosomal recessive pattern because of two types of syndactyly type I (SD1) and syndactyly type I-c. In families Bwn1, Bwn2, and Bwn3 the percentage of family members associated with syndactyly was 16%, 9.7%, and 6.89% respectively. It was further noted that all male members of all families were affected with syndactyly. This study finds out the type I (SD1) and type I-c syndactyly in the studied sample population.
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