Letters to the Editor ALLELISM IN HUMAN OCULOCUTANEOUS ALBINISM

نویسنده

  • STEPHEN T. WARREN
چکیده

To the Editor: In a recent paper by Hu et al. [1], a one-locus, three-allele system is proposed for the three forms ofhuman oculocutaneous albinism. In table 3 of their report, tyrosinase-positive (ty-pos) and tyrosinase-negative (ty-neg) albinism are shown to be, respectively, the heterozygous and homozygous states of the t allele. Previous work by others, as well as their own data, would seem to argue against the inclusion of ty-pos albinism in this genotype model. Biochemical, statistical, and genetic evidence, too lengthy to detail here, has clearly indicated genetic heterogeneity separating the ty-pos and ty-neg forms of albinism on the genotypic level (for review, see [2]). The proposal by Hu et al. would necessitate that parents of ty-neg albinos (obligate heterozygotes) are themselves afflicted with ty-pos albinism, a prediction unsupported by the literature [3]. Furthermore, the pedigree reported by Hu et al. provides evidence that the ty-pos form is not the heterozygous state ofty-neg albinism. For example, the individual in the pedigree, IV-10, who would be an obligate heterozygote for ty-neg albinism (T/t), is reported to have black hair, which is phenotypically inconsistent with the proposed model. Although the yellow mutant form of albinism may well be allelic for ty-neg albinism, the current data does not support the inclusion of ty-pos albinism in the allelic series. STEPHEN T. WARREN Department of Pediatrics and Human Development Michigan State University East Lansing, MI 48824

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A Unique Albino Village of Bhatti Tribe in Rural Sindh, Pakistan, with Oculocutaneous albinism Manifestations: An Epidemiological Study

Background: Oculocutaneous albinism is a disease with an autosomal recessive inheritance pattern in most cases. People with Oculocutaneous albinism face many health, psychological and financial issues. In this study, we report a unique village of Bhatti tribe in Jacobabad District, Pakistan, in which 40 children and adults with albinism live. The aim of this study was to observe the patte...

متن کامل

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...

متن کامل

Mutational Analysis of Oculocutaneous Albinism: A Compact Review

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainl...

متن کامل

گزارش اولین مورد سندرم فامیلی آلبینیسم چشمی ـ پوستی نوزادی در همراهی با سندرم

    Introduction: Albinism refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin and hair. Albinism doesn't occur together with other anomalies with the exception of a case associated with microcephaly and digital hypoplasia. VACTERL is a syndrome consisting of multiple anomalies such as vertebral anomalies, anal atresia, cardiac anomaly, ...

متن کامل

Oculocutaneous albinism type 2

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2006