Genetics

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Humans are born with 46 chromosomes in 23 pairs.

The X and Y chromosomes determine a person’s


sex. Most women are 46XX and most men are 46XY. Research suggests, however, that in a few births
per thousand some individuals will be born with a single sex chromosome (45X or 45Y) (sex
monosomies) and some with three or more sex chromosomes (47XXX, 47XYY or 47XXY, etc.) (sex
polysomies). In addition, some males are born 46XX due to the translocation of a tiny section of the
sex determining region of the Y chromosome. Similarly some females are also born 46XY due to
mutations in the Y chromosome. Clearly, there are not only females who are XX and males who are
XY, but rather, there is a range of chromosome complements, hormone balances, and phenotypic
variations that determine sex.
The biological differences between men and women result from two processes: sex determination and
differentiation.(3) The biological process of sex determination controls whether the male or female
sexual differentiation pathway will be followed. The process of biological sex differentiation
(development of a given sex) involves many genetically regulated, hierarchical developmental steps.
More than 95% of the Y chromosome is male-specific (4) and a single copy of the Y chromosome is
able to induce testicular differentiation of the embryonic gonad. The Y chromosome acts as a dominant
inducer of male phenotype and individuals having four X chromosomes and one Y chromosome
(49XXXXY) are phenotypically male. (5) When a Y chromosome is present, early embryonic testes
develop around the 10th week of pregnancy. In the absence of both a Y chromosome and the influence
of a testis-determining factor (TDF), ovaries develop.
Gender, typically described in terms of masculinity and femininity, is a social construction that varies
across different cultures and over time. (6) There are a number of cultures, for example, in which
greater gender diversity exists and sex and gender are not always neatly divided along binary lines such
as male and female or homosexual and heterosexual. The Berdache in North America, the fa’afafine
(Samoan for “the way of a woman”) in the Pacific, and the kathoey in Thailand are all examples of
different gender categories that differ from the traditional Western division of people into males and
females. Further, among certain North American native communities, gender is seen more in terms of a
continuum than categories, with special acknowledgement of “two-spirited” people who encompass
both masculine and feminine qualities and characteristics. It is apparent, then, that different cultures
have taken different approaches to creating gender distinctions, with more or less recognition of
fluidity and complexity of gender.
The XX/XY sex-determination system is the most familiar sex-determination systems, as it is found
in human beings, most other mammals, as well as some insects. However, at least one monotreme, the
platypus, presents a particular sex determination scheme that in some ways resembles that of the ZW
sex chromosomes of birds, and also lacks the SRY gene, whereas some rodents, such as several
Arvicolinae (voles and lemmings), are also noted for their unusual sex determination systems. The
platypus has ten sex chromosomes; males have an XYXYXYXYXY pattern while females have ten X
chromosomes. Although it is an XY system, the platypus' sex chromosomes share no homologues with
eutherian sex chromosomes.[1]. Instead, homologues with eutherian sex chromosomes lie on the
platypus chromosome 6, which means that the eutherian sex chromosomes were autosomes at the time
that the monotremes diverged from the therian mammals (marsupials and eutherian mammals).
However, homologues to the avian DMRT1 gene on platypus sex chromosomes X3 and X5 and suggest
that its possible the sex-determining gene for the platypus is the same one that is involved in bird sex-
determination. However, more research must be conducted in order to determine the exact sex
determining gene of the platypus.[2].

In the XY sex-determination system, females have two of the same kind of sex chromosome (XX),
while males have two distinct sex chromosomes (XY). Some species (including humans) have a gene
SRY on the Y chromosome that determines maleness; others (such as the fruit fly) use the presence of
two X chromosomes to determine femaleness. The XY sex chromosomes are different in shape and size
from each other unlike the autosomes, and are termed allosomes.
X linked disorders:
1.>>
X-linked conditions usually affect only males. A mutation causing a condition can be passed in the
family through female carriers who do not have the condition. However, each son of a female carrier
has a 50% chance of inheriting the mutation and, therefore, of having the condition.
?X-linked? genes are genes that are found on the X chromosome. ?Recessive? means that a person can
have the condition only if he or she does not have at least one usual copy of the gene.
A female has two X chromosomes and, therefore, two copies of each X-linked gene. A woman who has
one usual copy and one copy with a recessive mutation is called a carrier. She does not have the
condition, but can pass the copy with the recessive mutation on to her children.
A male has only one copy of the X chromosome, which he has gotten from his mother. If the copy that
he gets is the copy with the recessive mutation, he will have the condition because he does not have a
usual copy of the gene. If he gets his mother?s X chromosome that has the usual copy of the gene, he
will not have the condition. Therefore, a son of a carrier mother has a 50% chance of having the
condition. A male who has the condition passes his X chromosome to each of his daughters, so each
daughter will be a carrier. A male with the condition passes his Y chromosome to each of his sons, so
none of his sons will have the condition or be carriers (unless the mother is also a carrier).
Many X-linked conditions are truly recessive. That is, males who have a mutation in a gene on the X
chromosome have the condition and women who have a copy of the changed gene are carriers and are
not affected. However, researchers are finding out that many X-linked conditions are more complex
than once thought. ex.:some women who are carriers of Duchenne/Becker muscular dystrophy
(DBMD) (Causes of DBMD - DBMD mutation in females) have symptoms such as muscle weakness
and heart problems. Carriers for FXS can also have health problems (What health problems can affect
people who have a fragile X premutation?) related to having a fragile X gene change. The way that FX
is inherited (How does FXS run in families?) is more complex than typical X-linked inheritance.
2....
3...-autism Spectrum disorders (ASDs)
Y linked disorders

Pedigree chart, a document to record ancestry, used by genealogists in study of human family
lines, and in selective breeding of animals

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